SitesBLAST

SitesBLAST – Find functional sites

SitesBLAST

Comparing WP_035132493.1 NCBI__GCF_000769915.1:WP_035132493.1 to proteins with known functional sites using BLASTp with E ≤ 0.001.

Or try Sites on a Tree, PaperBLAST, Conserved Domains, or compare to all protein structures

Found 20 (the maximum) hits to proteins with known functional sites (download)

4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
38% identity, 71% coverage: 1:212/299 of query aligns to 1:219/285 of 4yerA

query
sites
4yerA

M

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binding adenosine-5'-diphosphate: F14 (= F14), F17 (≠ V17), N39 (= N39), G40 (= G40), G42 (= G42), K43 (= K43), T44 (≠ S44), T45 (= T45), T135 (= T129), F136 (≠ Y130), S137 (= S131)

6xjiC Pmtcd abc exporter at c1 symmetry (see paper)
28% identity, 98% coverage: 5:298/299 of query aligns to 1:288/290 of 6xjiC

query
sites
6xjiC

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binding phosphothiophosphoric acid-adenylate ester: Y10 (≠ F14), V15 (≠ A19), N35 (= N39), G36 (= G40), G38 (= G42), K39 (= K43), T40 (≠ S44), T41 (= T45), K115 (≠ S125), K119 (≠ T129), S121 (= S131)
binding magnesium ion: T40 (≠ S44), E70 (= E82)

4ymuJ Crystal structure of an amino acid abc transporter complex with arginines and atps (see paper)
32% identity, 70% coverage: 4:212/299 of query aligns to 1:219/240 of 4ymuJ

query
sites
4ymuJ

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binding adenosine-5'-triphosphate: F11 (= F14), V16 (≠ A19), S36 (≠ N39), G37 (= G40), S38 (= S41), G39 (= G42), K40 (= K43), S41 (= S44), T42 (= T45), E162 (= E155), H194 (= H187)
binding magnesium ion: S41 (= S44), E162 (= E155)

7o12B Abc transporter nosdfy, amppnp-bound in gdn (see paper)
33% identity, 72% coverage: 7:222/299 of query aligns to 5:220/298 of 7o12B

query
sites
7o12B

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binding phosphoaminophosphonic acid-adenylate ester: Y12 (≠ F14), V17 (≠ A19), N37 (= N39), G38 (= G40), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45), E80 (= E82)
binding magnesium ion: T42 (≠ S44), E80 (= E82)

7o17B Abc transporter nosdfy e154q, atp-bound in lipid nanodisc (see paper)
32% identity, 72% coverage: 7:222/299 of query aligns to 5:220/298 of 7o17B

query
sites
7o17B

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binding adenosine-5'-triphosphate: Y12 (≠ F14), V17 (≠ A19), N37 (= N39), G38 (= G40), A39 (≠ S41), G40 (= G42), K41 (= K43), T42 (≠ S44), T43 (= T45), E80 (= E82), R123 (≠ S125), T127 (= T129), S129 (= S131), K130 (≠ L132), G131 (= G133), M132 (= M134)
binding magnesium ion: K41 (= K43), T42 (≠ S44)

6xjhC Pmtcd abc exporter without the basket domain at c2 symmetry (see paper)
33% identity, 67% coverage: 5:205/299 of query aligns to 1:196/219 of 6xjhC

query
sites
6xjhC

L

M

T

K

I

L

N

E

N

H

L

I

H

T

K

K

F
x
Y

R

G

H

S

V

N

H

V

A
x
V

V

L

N

N

N

D

V

I

S

D

F

F

E

D

I

F

K

G

K

D

G

S

N

R

V

I

Y

V

G

G

I

L

L

I

G

G

P

K

N
|
N

G
|
G

S

V

G
|
G

K
|
K

S
x
T

T
|
T

T

V

L

M

G

K

I

V

I

M

L

-

N

-

V

-

N

-

K

-

T

-

S

N

G

G

S

N

Y

I

S

I

W

K

F

F

N

D

G

G

D

K

L

V

E

D

T

I

H

D

D

N

A

A

L

-

K

D

K

N

V

I

G

G

A

F

I

L

I

I

E
|
E

R

H

P

P

N

K

F

L

Y

Y

P

D

Y

N

M

K

T

S

A

G

Y

L

E

Y

N

N

L

L

K

K

L

L

V

F

C

A

G

Q

I

V

K

L

G

G

A

K

P

G

L

F

E

D

K

K

-

A

-

Y

I

T

D

D

E

K

K

I

L

I

E

D

L

A

V

F

G

G

L

M

L

R

E

P

R

Y

K

I

D

K

S
x
K

K

K

F

V

K

K

T
x
K

Y

Y

S
|
S

L

M

G

G

M

M

K

K

Q

Q

R

K

L

L

A

A

I

I

A

A

S

V

A

S

L

L

L

M

N

N

D

K

P

P

E

K

I

F

L

L

I

I

L

L

D

D

E

E

P

P

T

T

N

N

G

G

L

M

D

D

P

P

Q

D

G

G

I

S

R

I

Q

D

I

V

R

L

D

T

I

T

I

I

R

K

H

S

I

L

A

V

S

N

-

E

L

L

G

D

T

M

T

R

I

I

L

L

L

I

A

S

S

S

H

H

L

K

L

L

D

E

E

D

V

I

E

E

K

L

V

I

C

C

S

D

H

R

V

A

V

V

V

F

L

L

R

R

K

D

G

G

binding phosphothiophosphoric acid-adenylate ester: Y10 (≠ F14), V15 (≠ A19), N35 (= N39), G36 (= G40), G38 (= G42), K39 (= K43), T40 (≠ S44), T41 (= T45), K115 (≠ S125), K119 (≠ T129), S121 (= S131)
binding magnesium ion: T40 (≠ S44), E70 (= E82)

P30750 Methionine import ATP-binding protein MetN; EC 7.4.2.11 from Escherichia coli (strain K12) (see 3 papers)
33% identity, 70% coverage: 10:219/299 of query aligns to 11:231/343 of P30750

query
sites
P30750

L

F

H

H

K

Q

K

G

F

T

R

R

H

T

V

I

H

Q

A

A

V

L

N

N

V

V

S

S

F

L

E

H

I

V

K

P

K

A

G

G

N

Q

V

I

Y

Y

G

G

I

V

L

I

G

G

P

A

N
x
S

G
|
G

S
x
A

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

G

R

I

C

I

V

L

N

N

L

V

L

V

E

N

R

K

P

T

T

S

E

G

G

S

S

Y

V

S

L

W

V

F

D

N

G

G

Q

D

E

L

L

E

T

T

T

-

L

-

S

-

E

-

S

-

E

-

L

H

T

D

K

A

A

L

R

K

R

K

Q

V

I

G

G

A

M

I

I

I

F

E

Q

R

H

P

F

N

N

F

L

Y

L

P

S

Y

S

M

R

T

T

A

V

Y

F

E

G

N

N

L

V

K

A

L

L

V

P

C

L

G

E

I

L

K

D

G

N

A

T

P

P

L

K

E

D

-

E

-

V

-

K

-

R

K

R

I

V

D

T

E

E

K

L

L

L

E

S

L

L

V

V

G

G

L

L

L

G

E

D

R

K

K

H

D

D

S

S

K

Y

F

P

K

S

T

N

Y

L

S

S

L

G

G

G

M

Q

K

K

Q

Q

R

R

L

V

A

A

I

I

A

A

S

R

A

A

L

L

L

A

N

S

D

N

P

P

E

K

I

V

L

L

I

L

L

C

D

D

E
|
E

P

A

T

T

N

S

G

A

L

L

D

D

P

P

Q

A

G

T

I

T

R

R

Q

S

I

I

R

L

D

E

I

L

R

K

H

D

I

I

-

N

A

R

S

R

L

L

G

G

T

L

T

T

I

I

L

L

A

I

S

T

H

H

L

E

L

M

D

D

E

V

V

V

E

K

K

R

V

I

C

C

S

D

H

C

V

V

V

A

V

V

L

I

R

S

K

N

G

G

V

E

V

L

L

I

Y

E

T

Q

G

D

T

T

V

V

N

S

G

E

M

V

I

F

S

S

N

H

40:46 (vs. 39:45, 71% identical) binding ATP
E166 (= E155) mutation to Q: Exhibits little ATPase activity.

Sites not aligning to the query:

278:283 binding L-methionine
295 N→A: Reduces the binding of L-methionine to undetectable levels.
295:296 binding L-methionine

6cvlD Crystal structure of the escherichia coli atpgs-bound metni methionine abc transporter in complex with its metq binding protein (see paper)
33% identity, 70% coverage: 10:219/299 of query aligns to 12:232/344 of 6cvlD

query
sites
6cvlD

L
x
F

H

H

K
x
Q

K

G

F

T

R

R

H

T

V
x
I

H

Q

A

A

V

L

N

N

V

V

S

S

F

L

E

H

I

V

K

P

K

A

G

G

N

Q

V

I

Y

Y

G

G

I

V

L

I

G

G

P

A

N
x
S

G
|
G

S
x
A

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

G

R

I

C

I

V

L

N

N

L

V

L

V

E

N

R

K

P

T

T

S

E

G

G

S

S

Y

V

S

L

W

V

F

D

N

G

G

Q

D

E

L

L

E

T

T

T

-

L

-

S

-

E

-

S

-

E

-

L

H

T

D

K

A

A

L

R

K

R

K

Q

V

I

G

G

A

M

I

I

I

F

E

Q

R

H

P

F

N

N

F

L

Y

L

P

S

Y

S

M

R

T

T

A

V

Y

F

E

G

N

N

L

V

K

A

L

L

V

P

C

L

G

E

I

L

K

D

G

N

A

T

P

P

L

K

E

D

-

E

-

V

-

K

-

R

K

R

I

V

D

T

E

E

K

L

L

L

E

S

L

L

V

V

G

G

L

L

L

G

E

D

R

K

K

H

D

D

S

S

K

Y

F

P

K

S

T
x
N

Y

L

S
|
S

L

G

G

G

M
x
Q

K

K

Q

Q

R

R

L

V

A

A

I

I

A

A

S

R

A

A

L

L

L

A

N

S

D

N

P

P

E

K

I

V

L

L

I

L

L

C

D

D

E

Q

P

A

T

T

N

S

G

A

L

L

D

D

P

P

Q

A

G

T

I

T

R

R

Q

S

I

I

R

L

D

E

I

L

R

K

H

D

I

I

-

N

A

R

S

R

L

L

G

G

T

L

T

T

I

I

L

L

A

I

S

T

H
|
H

L

E

L

M

D

D

E

V

V

V

E

K

K

R

V

I

C

C

S

D

H

C

V

V

V

A

V

V

L

I

R

S

K

N

G

G

V

E

V

L

L

I

Y

E

T

Q

G

D

T

T

V

V

N

S

G

E

M

V

I

F

S

S

N

H

binding phosphothiophosphoric acid-adenylate ester: F12 (≠ L10), Q14 (≠ K12), I19 (≠ V17), S41 (≠ N39), G42 (= G40), A43 (≠ S41), G44 (= G42), K45 (= K43), S46 (= S44), T47 (= T45), N141 (≠ T129), S143 (= S131), Q146 (≠ M134), H200 (= H187)

3tuzC Inward facing conformations of the metni methionine abc transporter: cy5 semet soak crystal form (see paper)
33% identity, 70% coverage: 10:219/299 of query aligns to 12:232/344 of 3tuzC

query
sites
3tuzC

L
x
F

H

H

K
x
Q

K

G

F

T

R

R

H

T

V

I

H

Q

A

A

V

L

N

N

V

V

S

S

F

L

E

H

I

V

K

P

K

A

G

G

N

Q

V

I

Y

Y

G

G

I

V

L

I

G

G

P

A

N

S

G
|
G

S

A

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

G

R

I

C

I

V

L

N

N

L

V

L

V

E

N

R

K

P

T

T

S

E

G

G

S

S

Y

V

S

L

W

V

F

D

N

G

G

Q

D

E

L

L

E

T

T

T

-

L

-

S

-

E

-

S

-

E

-

L

H

T

D

K

A

A

L

R

K

R

K

Q

V

I

G

G

A

M

I

I

I

F

E

Q

R

H

P

F

N

N

F

L

Y

L

P

S

Y

S

M

R

T

T

A

V

Y

F

E

G

N

N

L

V

K

A

L

L

V

P

C

L

G

E

I

L

K

D

G

N

A

T

P

P

L

K

E

D

-

E

-

V

-

K

-

R

K

R

I

V

D

T

E

E

K

L

L

L

E

S

L

L

V

V

G

G

L

L

L

G

E

D

R

K

K

H

D

D

S

S

K

Y

F

P

K

S

T

N

Y

L

S

S

L

G

G

G

M

Q

K

K

Q

Q

R

R

L

V

A

A

I

I

A

A

S

R

A

A

L

L

L

A

N

S

D

N

P

P

E

K

I

V

L

L

I

L

L

C

D

D

E

Q

P

A

T

T

N

S

G

A

L

L

D

D

P

P

Q

A

G

T

I

T

R

R

Q

S

I

I

R

L

D

E

I

L

R

K

H

D

I

I

-

N

A

R

S

R

L

L

G

G

T

L

T

T

I

I

L

L

A

I

S

T

H

H

L

E

L

M

D

D

E

V

V

V

E

K

K

R

V

I

C

C

S

D

H

C

V

V

V

A

V

V

L

I

R

S

K

N

G

G

V

E

V

L

L

I

Y

E

T

Q

G

D

T

T

V

V

N

S

G

E

M

V

I

F

S

S

N

H

binding adenosine-5'-diphosphate: F12 (≠ L10), Q14 (≠ K12), G42 (= G40), G44 (= G42), K45 (= K43), S46 (= S44), T47 (= T45)

Sites not aligning to the query:

binding selenomethionine: 274, 279, 281, 282, 283, 284, 311, 313

3tuiC Inward facing conformations of the metni methionine abc transporter: cy5 native crystal form (see paper)
33% identity, 70% coverage: 10:219/299 of query aligns to 12:232/344 of 3tuiC

query
sites
3tuiC

L
x
F

H

H

K

Q

K

G

F

T

R

R

H

T

V

I

H

Q

A

A

V

L

N

N

V

V

S

S

F

L

E

H

I

V

K

P

K

A

G

G

N

Q

V

I

Y

Y

G

G

I

V

L

I

G

G

P

A

N

S

G
|
G

S
x
A

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

G

R

I

C

I

V

L

N

N

L

V

L

V

E

N

R

K

P

T

T

S

E

G

G

S

S

Y

V

S

L

W

V

F

D

N

G

G

Q

D

E

L

L

E

T

T

T

-

L

-

S

-

E

-

S

-

E

-

L

H

T

D

K

A

A

L

R

K

R

K

Q

V

I

G

G

A

M

I

I

I

F

E

Q

R

H

P

F

N

N

F

L

Y

L

P

S

Y

S

M

R

T

T

A

V

Y

F

E

G

N

N

L

V

K

A

L

L

V

P

C

L

G

E

I

L

K

D

G

N

A

T

P

P

L

K

E

D

-

E

-

V

-

K

-

R

K

R

I

V

D

T

E

E

K

L

L

L

E

S

L

L

V

V

G

G

L

L

L

G

E

D

R

K

K

H

D

D

S

S

K

Y

F

P

K

S

T

N

Y

L

S

S

L

G

G

G

M

Q

K

K

Q

Q

R

R

L

V

A

A

I

I

A

A

S

R

A

A

L

L

L

A

N

S

D

N

P

P

E

K

I

V

L

L

I

L

L

C

D

D

E

Q

P

A

T

T

N

S

G

A

L

L

D

D

P

P

Q

A

G

T

I

T

R

R

Q

S

I

I

R

L

D

E

I

L

R

K

H

D

I

I

-

N

A

R

S

R

L

L

G

G

T

L

T

T

I

I

L

L

A

I

S

T

H

H

L

E

L

M

D

D

E

V

V

V

E

K

K

R

V

I

C

C

S

D

H

C

V

V

V

A

V

V

L

I

R

S

K

N

G

G

V

E

V

L

L

I

Y

E

T

Q

G

D

T

T

V

V

N

S

G

E

M

V

I

F

S

S

N

H

binding adenosine-5'-diphosphate: F12 (≠ L10), G42 (= G40), A43 (≠ S41), G44 (= G42), K45 (= K43), S46 (= S44), T47 (= T45)

8k1pB Mycobacterial efflux pump, adp+vanadate bound state
35% identity, 69% coverage: 7:213/299 of query aligns to 6:213/213 of 8k1pB

query
sites
8k1pB

I

I

N

R

N

G

L

L

H

T

K

K

K

H

F
|
F

R

G

H

S

V

V

H

R

A

A

V

L

N

D

N

G

V

L

S

D

F

L

E

T

I

V

K

R

K

E

G

G

N

E

V

V

Y

H

G

G

I

F

L

L

G

G

P

P

N
|
N

G
|
G

S
x
A

G
|
G

K
|
K

S
|
S

T
|
T

T

T

L

L

G

R

I

I

I

L

L

L

N

G

V

L

V

V

N

K

K

A

T

D

S

G

G

G

S

S

Y

V

S

R

W

L

F

L

N

G

G

G

D

D

L

P

E

W

T

T

H

D

-

A

-

V

D

D

A

L

L

H

K

R

K

H

V

I

G

A

A

Y

I

V

I

P

E

G

R

D

P

V

N

T

F

L

Y

W

P

P

Y

S

M

L

T

T

A

G

Y

G

E

E

N

T

L

I

K

D

L

L

V

L

C

A

G

R

I

M

K

R

G

G

A

G

P

-

L

-

E

-

K

-

I

I

D

D

-

N

-

A

-

R

-

A

E

E

K

L

L

I

E

E

L

R

V

F

G

G

L

L

L

D

E

P

R

T

K

K

D

-

S

-

K

K

F

A

K

R

T
|
T

Y

Y

S
|
S

L

K

G

G

M

N

K

R

Q

Q

R

K

L

V

A

S

I

L

A

I

S

S

A

A

L

L

L

S

N

S

D

H

P

A

E

T

I

L

L

L

I

L

L

L

D

D

E

E

P

P

T

S

N

S

G

G

L

L

D

D

P

P

Q

L

G

M

I

E

R

N

Q

V

I

F

R

Q

D

Q

I

C

I

I

R

G

H

E

I

A

A

R

S

Q

L

R

G

G

T

V

T

T

I

V

L

L

A

S

S

S

H

H

L

I

L

L

D

A

E

E

V

T

E

E

K

A

V

L

C

C

S

E

H

K

V

V

V

T

V

I

L

I

R

R

K

A

G

G

V

K

V

T

L

V

Y

E

T

S

G

G

T

S

V

L

binding adenosine-5'-diphosphate: F13 (= F14), N38 (= N39), G39 (= G40), A40 (≠ S41), G41 (= G42), K42 (= K43), S43 (= S44), T44 (= T45)
binding adenosine-5'-triphosphate: T129 (= T129), S131 (= S131)

8k1oB Mycobacterial efflux pump, amppnp bound state (see paper)
35% identity, 69% coverage: 7:213/299 of query aligns to 8:215/215 of 8k1oB

query
sites
8k1oB

I

I

N

R

N

G

L

L

H

T

K

K

K

H

F

F

R

G

H

S

V

V

H

R

A

A

V

L

N

D

N

G

V

L

S

D

F

L

E

T

I

V

K

R

K

E

G

G

N

E

V

V

Y

H

G

G

I

F

L

L

G

G

P

P

N
|
N

G

G

S

A

G
|
G

K
|
K

S
|
S

T
|
T

T

T

L

L

G

R

I

I

I

L

L

L

N

G

V

L

V

V

N

K

K

A

T

D

S

G

G

G

S

S

Y

V

S

R

W

L

F

L

N

G

G

G

D

D

L

P

E

W

T

T

H

D

-

A

-

V

D

D

A

L

L

H

K

R

K

H

V

I

G

A

A

Y

I

V

I

P

E

G

R

D

P

V

N

T

F

L

Y

W

P

P

Y

S

M

L

T

T

A

G

Y

G

E

E

N

T

L

I

K

D

L

L

V

L

C

A

G

R

I

M

K

R

G

G

A

G

P

-

L

-

E

-

K

-

I

I

D

D

-

N

-

A

-

R

-

A

E

E

K

L

L

I

E

E

L

R

V

F

G

G

L

L

L

D

E

P

R

T

K

K

D

-

S

-

K

K

F

A

K

R

T
|
T

Y

Y

S
|
S

L

K

G

G

M

N

K

R

Q

Q

R

K

L

V

A

S

I

L

A

I

S

S

A

A

L

L

L

S

N

S

D

H

P

A

E

T

I

L

L

L

I

L

L

L

D

D

E

E

P

P

T

S

N

S

G

G

L

L

D

D

P

P

Q

L

G

M

I

E

R

N

Q

V

I

F

R

Q

D

Q

I

C

I

I

R

G

H

E

I

A

A

R

S

Q

L

R

G

G

T

V

T

T

I

V

L

L

A

S

S

S

H

H

L

I

L

L

D

A

E

E

V

T

E

E

K

A

V

L

C

C

S

E

H

K

V

V

V

T

V

I

L

I

R

R

K

A

G

G

V

K

V

T

L

V

Y

E

T

S

G

G

T

S

V

L

binding phosphoaminophosphonic acid-adenylate ester: N40 (= N39), G43 (= G42), K44 (= K43), S45 (= S44), T46 (= T45), T131 (= T129), S133 (= S131)

4u00A Crystal structure of ttha1159 in complex with adp (see paper)
32% identity, 70% coverage: 4:211/299 of query aligns to 2:218/241 of 4u00A

query
sites
4u00A

I

I

L

I

T

R

I

I

N

R

N

N

L

L

H

H

K

K

K

W

F
|
F

R

G

H

P

V

L

H

H

A
x
V

V

L

N

K

N

G

V

I

S

H

F

L

E

E

I

V

K

A

K

P

G

G

N

E

V

K

Y

L

G

V

I

I

L

I

G

G

P

P

N
x
S

G
|
G

S
|
S

G
|
G

K
|
K

S
|
S

T
|
T

T

L

L

I

G

R

I

T

I

I

L

N

N

R

V

L

V

E

N

D

K

F

T

Q

S

E

G

G

S

E

Y

V

S

V

W

V

F

D

N

G

G

L

D

S

L

V

E

K

T

D

H

D

D

R

A

A

L

L

K

R

K

E

-

I

-

R

-

E

V

V

G

G

A

M

I

V

I

F

E

Q

R

Q

P

F

N

N

F

L

Y

F

P

P

Y

H

M

M

T

T

A

V

Y

L

E

E

N

N

L

V

K

T

L

L

V

A

-

P

C

M

G

R

I

V

K

R

G

R

A

W

P

P

L

R

E

E

K

K

I

A

D

E

E

K

K

K

-

A

-

L

-

E

-

L

L

L

E

E

L

R

V

V

G

G

L

I

L

L

E

D

R

Q

K

A

D

R

S

K

K

Y

F

P

K

A

T

Q

Y

L

S

S

L

G

G

G

M

Q

K

Q

Q

Q

R

R

L

V

A

A

I

I

A

A

S

R

A

A

L

L

L

A

N

M

D

E

P

P

E

K

I

I

L

M

I

L

L

F

D

D

E

E

P

P

T

T

N

S

G

A

L

L

D

D

P

P

Q

E

G

M

I

V

R

G

Q

E

I

V

R

L

D

D

I

V

I

M

R

R

H

D

I

L

A

A

S

Q

L

G

G

G

T

M

T

T

I

M

L

V

A

V

S

T

H

H

L

E

L

M

D

G

E

F

V

A

E

R

K

E

V

V

C

A

S

D

H

R

V

V

V

F

L

M

R

D

K

G

G

G

V

Q

V

I

L

V

Y

E

T

E

G

G

binding adenosine-5'-diphosphate: F12 (= F14), V17 (≠ A19), S37 (≠ N39), G38 (= G40), S39 (= S41), G40 (= G42), K41 (= K43), S42 (= S44), T43 (= T45)

Q8IUA7 ATP-binding cassette sub-family A member 9; EC 7.6.2.- from Homo sapiens (Human) (see 2 papers)
30% identity, 94% coverage: 9:289/299 of query aligns to 1298:1582/1624 of Q8IUA7

query
sites
Q8IUA7

N

N

L

C

H

F

K

S

K

K

F

R

R

K

H

K

V
x
K

H

I

A

A

V

T

N

R

N

N

V

V

S

S

F

F

E

C

I

V

K

K

G

G

N

E

V

V

Y

I

G

G

I

L

L

L

G

G

P

H

N

N

G

G

S

A

G

G

K

K

S

S

T

T

L

I

G

K

I

M

I

I

L

T

N

G

V

D

V

T

N

K

K

P

T

T

S

A

G

G

S

Q

Y

V

S

I

W

-

F

L

N

K

G

G

D

S

L

-

E

G

T

G

H

G

D

E

A

P

L

L

K

G

K

F

V

L

G

G

A

Y

I

C

I

P

E

Q

R

E

P

N

N

A

F

L

Y

W

P

P

Y

N

M

L

T

T

A

V

Y

R

E

Q

N

H

L

L

K

E

L

V

V

Y

C

A

G

A

I

V

K

K

G

G

A

-

P

-

L

L

E

R

K

K

I

G

D

D

E

A

K

M

L

I

-

A

-

I

-

T

E

R

L

L

V

V

G

D

L

A

L

L

E

K

R

L

K

Q

D

D

-

Q

-

L

-

K

S

A

K

P

F

V

K

K

T

T

Y

L

S

S

L

E

G

G

M

I

K

K

Q

R

R

K

L

L

A

C

I

F

A

V

S

L

A

S

L

I

L

L

N

G

D

N

P

P

E

S

I

V

L

V

I

L

L

L

D

D

E

E

P

P

T

S

N

T

G

G

L

M

D

D

P

P

Q

E

G

G

I

Q

R

Q

Q

Q

I

M

R

W

D

Q

I

V

I

I

R

R

H

-

I

-

A

A

S

T

L

F

G

R

T

N

T

T

-

E

-

R

-

G

I

A

L

L

A

T

S

T

H

H

L

Y

L

M

D

A

E

E

V

A

E

E

K

A

V

V

C

C

S

D

H

R

V

V

V

A

V

I

L

M

R

V

K

S

G

G

V

R

V

L

L

R

Y

C

T

I

G

G

T

S

V

I

N

Q

G

H

M

L

I

K

S

S

N

K

E

F

G

G

-

K

-

D

-

Y

F

L

E

E

L

M

E

K

A

L

N

K

D

N

K

L

Q

A

S

Q

L

M

K

E

T

P

-

L

-

H

-

A

-

E

I

I

L

L

Q

R

Q

L

H

F

P

P

A

Q

I

A

D

A

K

Q

I

-

E

Q

E

E

N

R

E

F

S

S

K

S

L

L

I

M

V

V

Y

Y

L

-

K

-

E

-

S

K

L

L

E

P

A

V

A

E

D

D

L

V

N

R

K

P

Y

L

L

-

S

-

S

S

Q

Q

G

A

I

F

Y

F

L

K

S

L

H

E

L

I

V

V

K

K

R

Q

Q

S

Y

F

S

D

L

L

E

E

K1306 (≠ V17) to T: in dbSNP:rs2302294

Sites not aligning to the query:

353 R → H: in dbSNP:rs1860447
949 modified: carbohydrate, N-linked (GlcNAc...) asparagine

Q5SSE9 ATP-binding cassette sub-family A member 13; EC 7.6.2.- from Mus musculus (Mouse) (see paper)
28% identity, 98% coverage: 4:296/299 of query aligns to 4691:5009/5034 of Q5SSE9

query
sites
Q5SSE9

I

M

L

M

T

V

I

L

N

C

N

N

L

L

H

S

K

K

K

S

F

Y

R

R

H

S

V

V

H

F

-

G

-

K

-

T

A

A

V

V

N

H

N

G

V

I

S

S

F

L

E

G

I

I

K

P

K

R

G

G

N

E

V

C

Y

F

G

G

I

L

L

L

G

G

P

V

N

N

G

G

S

A

G

G

K
|
K

S

S

T

T

L

F

G

K

I

I

I

-

L

L

N

N

V

G

V

E

N

T

K

P

T

P

S

S

G

S

S

G

Y

Y

S

T

W

V

F

I

-

R

-

T

-

P

N

Q

G

G

D

D

L

M

E

V

T

D

H

L

D

A

A

S

L

A

K

G

K

K

V

A

G

G

A

I

I

L

I

I

-

G

-

Y

-

C

-

P

E

Q

R

Q

P

D

N

A

F

L

Y

D

P

E

Y

L

M

L

T

T

A

G

Y

W

E

E

N

H

L

L

K

Q

L

Y

V

Y

C

C

G

R

I

L

K

R

G

G

A

I

P

P

L

K

E

Q

K

Y

I

I

D

P

E

E

-

V

K

A

L

A

E

D

L

L

V

V

G

R

L
x
R

L

L

E

H

R

L

K

E

-

S

-

H

-

V

D

D

S

K

K

P

F

V

K

A

T

T

Y

Y

S

S

L

G

G

G

M

T

K

R

Q

R

R

K

L

L

A

S

I

T

A

A

S

L

A

A

L

L

L

V

N

G

D

K

P

P

E

D

I

I

L

L

I

L

L

L

D

D

E

E

P

P

T

S

N

S

G

G

L

M

D

D

P

P

Q

C

G

S

I

K

R

R

Q

Y

I

L

R

W

D

Q

I

T

I

I

R

T

H

Q

I

E

A

V

S

R

L

D

G

G

T

C

T

A

I

A

L

V

L

L

A

T

S

S

H

H

L

S

L

M

D

E

E

E

V

C

E

E

K

A

V

L

C

C

S

T

H

R

V

L

V

A

V

I

L

M

R

V

K

D

G

G

V

S

V

F

L

R

Y

C

T

L

G

G

T

P

V

P

N

Q

G

H

M

I

I

K

S

N

N

R

E

F

G

G

-

D

-

G

-

Y

-

T

-

V

-

K

-

V

F

W

F

L

E

H

L

K

E

E

A

G

N

S

D

Q

K

P

Q

S

S

A

L

V

K

S

T

D

I

C

L

L

Q

K

Q

L

H

H

-

F

P

P

A

G

I

I

D

Q

K

F

I

K

E

G

E

Q

N

R

E

L

S

N

K

L

L

L

I

E

V

Y

Y

H

L

V

K

Q

E

K

S

S

L

W

E

E

A

C

-

L

A

A

D

D

L

L

N

F

K

K

Y

V

L

L

S

E

S

N

Q

N

G

K

I

S

Y

L

L

L

S

N

-

I

-

E

H

H

L

Y

V

S

K

I

R

S

Q

Q

Y

T

S

T

L

L

E

E

E

Q

Q

V

F

F

I

V

Q

N

L

F

T

A

S

T

K4735 (= K43) mutation to M: Does not affect intracellular vesicle localization.Affects cholesterol internalization.
R4818 (≠ L119) mutation to C: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.

Sites not aligning to the query:

3577 H→P: Does not affect protein expression. Decreases intracellular cholesterol accumulation in the vesicle.
3849 K→M: Does not affect intracellular vesicle localization. Affects cholesterol internalization.
3999 T→A: Does not affect protein expression. Affects intracellular vesicles localization. Impairs intracellular cholesterol accumulation in the vesicle.

F1MWM0 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP; Retinal-specific ATP-binding cassette transporter; EC 7.6.2.1 from Bos taurus (Bovine) (see 2 papers)
31% identity, 73% coverage: 4:221/299 of query aligns to 1935:2160/2281 of F1MWM0

query
sites
F1MWM0

I

I

L

L

T

R

I

L

N

N

N

E

L

L

H

T

K

K

K

V

F

Y

R

S

H

G

V

T

H

S

-

S

-

P

A

A

V

V

N

D

N

R

V

L

S

C

F

V

E

G

I

V

K

R

K

P

G

G

N

E

V

C

Y

F

G

G

I

L

L

L

G

G

P

V

N

N

G

G

S

A

G

G

K

K

S

T

T

T

L

F

G

K

I

M

I

L

L

T

N

G

V

D

V

T

N

A

K

V

T

T

S

S

G

G

S

D

Y

A

S

T

W

V

F

A

N

G

G

K

D

S

L

I

E

L

T

T

H

N

-

I

-

S

D

D

A

V

L

H

K

Q

K

S

V

M

G

G

A

Y

I

C

I

P

E

Q

R

F

P

D

N

A

F

I

Y

D

P

D

Y

L

M

L

T

T

A

G

Y

R

E

E

N

H

L

L

K

Y

L

L

V

Y

C

A

G

R

I

L

K

R

G

G

A

V

P

P

L

A

E

E

K

E

I

I

D

E

E

R

-

V

-

T

-

N

-

W

K

S

L

I

E

Q

L

S

V

L

G

G

L

L

L

S

E

L

R

Y

K

A

D

D

S

R

K

L

F

A

K

G

T

T

Y

Y

S

S

L

G

G

G

M

N

K

K

Q

R

R

K

L

L

A

S

I

T

A

A

S

I

A

A

L

L

L

I

N

G

D

C

P

P

E

P

I

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

N

T

G

G

L

M

D

D

P

P

Q

Q

G

A

I

R

R

R

Q

M

I

L

R

W

D

N

I

T

I

I

R

M

H

G

I

I

A

I

S

R

L

E

G

G

T

R

T

A

I

V

L

V

L

L

A

T

S

S

H

H

L

S

L

M

D

E

E

E

V

C

E

E

K

A

V

L

C

C

S

T

H

R

V

L

V

A

V

I

L

M

R

V

K

K

G

G

V

A

V

F

L

Q

Y

C

T

L

G

G

T

T

V

I

N

Q

G

H

M

L

I

K

S

S

N

K

E

F

G

G

Sites not aligning to the query:

415 modified: carbohydrate, N-linked (Hex...) asparagine
504 modified: carbohydrate, N-linked (Hex...) asparagine
901 modified: Phosphothreonine; T→A: Decreases expression level. Affects subcellular location.
1185 modified: Phosphoserine; S→A: Does not affect subcellular location. Does not affect expression level. Does not affect ATPase activity. Reduces the stimulating effect of all-trans-retinal on ATP hydrolysis.
1309 Cleavage; by trypsin
1313 modified: Phosphothreonine; T→A: Does not affect subcellular location. Does not affect expression level. Does not affect ATPase activity. Reduces the stimulating effect of all-trans-retinal on ATP hydrolysis.
1317 modified: Phosphoserine; S→A: Does not affect subcellular location. Does not affect expression level. Affects both the basal and stimulated ATPase activity.
1319 modified: Phosphoserine
1455 modified: carbohydrate, N-linked (Hex...) asparagine
1527 modified: carbohydrate, N-linked (Hex...) asparagine
1660 modified: carbohydrate, N-linked (Hex...) asparagine

8f5bA Human abca4 structure in complex with amp-pnp (see paper)
29% identity, 68% coverage: 19:221/299 of query aligns to 1632:1840/1924 of 8f5bA

query
sites
8f5bA

A

A

V

V

N

D

N

R

V

L

S

C

F

V

E

G

I

V

K

R

K

P

G

G

N

E

V

C

Y

F

G

G

I

L

L

L

G

G

P

V

N
|
N

G
|
G

S
x
A

G
|
G

K
|
K

S
x
T

T

T

L

F

G

K

I

M

I

L

L

T

N

G

V

D

V

T

N

T

K

V

T

T

S

S

G

G

S

-

Y

-

S

-

W

-

F

-

N

D

G

A

D

T

L

V

E

A

T

G

H

K

D

S

A

I

L

L

K

T

K

N

V

I

G

S

A

E

I

V

I

H

E

Q

R

N

P

M

N

G

F

Y

Y

C

P

P

-
x
Q

-

F

-

D

-

A

-

I

-

D

-

E

Y

L

M

L

T

T

A

G

Y

R

E

E

N

H

L

L

K

Y

L

L

V

Y

C

A

G

R

I

L

K

R

G

G

A

V

P

P

L

A

E

E

K

E

I

I

D

E

E

K

-

V

-

A

-

N

-

W

K

S

L

I

E

K

L

S

V

L

G

G

L

L

L

T

E

V

R

Y

K

A

D

D

S

C

K

L

F

A

K

G

T
|
T

Y

Y

S
|
S

L

G

G

G

M

N

K

K

Q

R

R

K

L

L

A

S

I

T

A

A

S

I

A

A

L

L

L

I

N

G

D

C

P

P

E

P

I

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

N

T

G

G

L

M

D

D

P

P

Q

Q

G

A

I

R

R

R

Q

M

I

L

R

W

D

N

I

V

I

I

R

V

H

S

I

I

A

I

S

R

L

E

G

G

T

R

T

A

I

V

L

V

L

L

A

T

S

S

H

H

L

S

L

M

D

E

E

E

V

C

E

E

K

A

V

L

C

C

S

T

H

R

V

L

V

A

V

I

L

M

R

V

K

K

G

G

V

A

V

F

L

R

Y

C

T

M

G

G

T

T

V

I

N

Q

G

H

M

L

I

K

S

S

N

K

E

F

G

G

binding phosphoaminophosphonic acid-adenylate ester: N1652 (= N39), G1653 (= G40), A1654 (≠ S41), G1655 (= G42), K1656 (= K43), T1657 (≠ S44), Q1697 (vs. gap), T1748 (= T129), S1750 (= S131)
binding magnesium ion: T1657 (≠ S44), Q1697 (vs. gap)

Sites not aligning to the query:

binding phosphoaminophosphonic acid-adenylate ester: 757, 758, 760, 761, 762, 763, 802, 853
binding magnesium ion: 762, 802

7lkpA Structure of atp-free human abca4 (see paper)
29% identity, 68% coverage: 19:221/299 of query aligns to 1647:1855/1941 of 7lkpA

query
sites
7lkpA

A

A

V

V

N

D

N

R

V

L

S

C

F

V

E

G

I

V

K

R

K

P

G

G

N

E

V

C

Y

F

G

G

I

L

L

L

G

G

P

V

N

N

G

G

S

A

G

G

K

K

S

T

T

T

L

F

G

K

I

M

I

L

L

T

N

G

V

D

V

T

N

T

K

V

T

T

S

S

G

G

S

-

Y

-

S

-

W

-

F

-

N

D

G

A

D

T

L

V

E

A

T

G

H

K

D

S

A

I

L

L

K

T

K

N

V

I

G

S

A

E

I

V

I

H

E

Q

R

N

P

M

N

G

F

Y

Y

C

P

P

-

Q

-

F

-

D

-

A

-

I

-

D

-

E

Y

L

M

L

T

T

A

G

Y

R

E

E

N

H

L

L

K

Y

L

L

V

Y

C

A

G

R

I

L

K

R

G

G

A

V

P

P

L

A

E

E

K

E

I

I

D

E

E

K

-

V

-

A

-

N

-

W

K

S

L

I

E

K

L

S

V

L

G

G

L

L

L

T

E

V

R

Y

K

A

D

D

S

C

K

L

F

A

K

G

T

T

Y

Y

S

S

L

G

G

G

M

N

K

K

Q

R

R

K

L

L

A

S

I

T

A

A

S

I

A

A

L

L

L

I

N

G

D

C

P

P

E

P

I

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

N

T

G

G

L

M

D

D

P

P

Q

Q

G

A

I

R

R

R

Q

M

I

L

R

W

D

N

I

V

I

I

R

V

H

S

I

I

A

I

S

R

L

E

G

G

T

R

T

A

I

V

L

V

L

L

A

T

S

S

H

H

L

S

L

M

D

E

E

E

V

C

E

E

K

A

V

L

C

C

S

T

H

R

V

L

V

A

V

I

L

M

R

V

K

K

G

G

V

A

V

F

L

R

Y

C

T

M

G

G

T

T

V

I

N

Q

G

H

M

L

I

K

S

S

N

K

E

F

G

G

Sites not aligning to the query:

binding Digitonin: 522, 526, 530, 533, 616, 819, 863
binding cholesterol: 9, 10, 13, 617, 1073, 1074, 1076, 1402, 1436, 1487, 1492, 1495, 1496, 1499, 1603

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
29% identity, 68% coverage: 19:221/299 of query aligns to 1719:1927/2003 of 7e7oA

query
sites
7e7oA

A

A

V

V

N

D

N

R

V

L

S

C

F

V

E

G

I

V

K

R

K

P

G

G

N

E

V

C

Y

F

G

G

I

L

L

L

G

G

P

V

N

N

G

G

S

A

G

G

K

K

S

T

T

T

L

F

G

K

I

M

I

L

L

T

N

G

V

D

V

T

N

T

K

V

T

T

S

S

G

G

S

-

Y

-

S

-

W

-

F

-

N

D

G

A

D

T

L

V

E

A

T

G

H

K

D

S

A

I

L

L

K

T

K

N

V

I

G

S

A

E

I

V

I

H

E

Q

R

N

P

M

N

G

F

Y

Y

C

P

P

-

Q

-

F

-

D

-

A

-

I

-

D

-

E

Y

L

M

L

T

T

A

G

Y

R

E

E

N

H

L

L

K

Y

L

L

V

Y

C

A

G

R

I

L

K

R

G

G

A

V

P

P

L

A

E

E

K

E

I

I

D

E

E

K

-

V

-

A

-

N

-

W

K

S

L

I

E

K

L

S

V

L

G

G

L

L

L

T

E

V

R

Y

K

A

D

D

S

C

K

L

F

A

K

G

T

T

Y

Y

S

S

L

G

G

G

M

N

K

K

Q

R

R

K

L

L

A

S

I

T

A

A

S

I

A

A

L

L

L

I

N

G

D

C

P

P

E

P

I

L

L

V

I

L

L

L

D

D

E

E

P

P

T

T

N

T

G

G

L

M

D

D

P

P

Q

Q

G

A

I

R

R

R

Q

M

I

L

R

W

D

N

I

V

I

I

R

V

H

S

I

I

A

I

S

R

L

E

G

G

T

R

T

A

I

V

L

V

L

L

A

T

S

S

H

H

L

S

L

M

D

E

E

E

V

C

E

E

K

A

V

L

C

C

S

T

H

R

V

L

V

A

V

I

L

M

R

V

K

K

G

G

V

A

V

F

L

R

Y

C

T

M

G

G

T

T

V

I

N

Q

G

H

M

L

I

K

S

S

N

K

E

F

G

G

Sites not aligning to the query:

binding [(2S)-3-[2-[(E)-[(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenylidene]amino]ethoxy-oxidanyl-phosphoryl]oxy-2-[(Z)-octadec-9-enoyl]oxy-propyl] (Z)-octadec-9-enoate: 285, 290, 526, 527, 589, 592, 1454

P78363 Retinal-specific phospholipid-transporting ATPase ABCA4; ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM proteinv; RmP; Retinal-specific ATP-binding cassette transporter; Stargardt disease protein; EC 7.6.2.1 from Homo sapiens (Human) (see 43 papers)
29% identity, 68% coverage: 19:221/299 of query aligns to 1954:2162/2273 of P78363

query
sites
P78363

A
|
A

V
|
V

N
x
D

N
x
R

V
x
L

S
x
C

F
x
V

E
x
G

I
x
V

K
x
R

K
x
P

G
|
G

N
x
E

V
x
C

Y
x
F

G
|
G

I
x
L

L
|
L

G
|
G

P
x
V

N
|
N

G
|
G

S
x
A

G
|
G

K
|
K

S
x
T

T
|
T

L
x
F

G
x
K

I
x
M

I
x
L

L
x
T

N
x
G

V
x
D

V
x
T

N
x
T

K
x
V

T
|
T

S
|
S

G
|
G

S

-

Y

-

S

-

W

-

F

-

N
x
D

G
x
A

D
x
T

L
x
V

E
x
A

T
x
G

H
x
K

D
x
S

A
x
I

L
|
L

K
x
T

K
x
N

V
x
I

G
x
S

A
x
E

I
x
V

I
x
H

E
x
Q

R
x
N

P
x
M

N
x
G

F
x
Y

Y
x
C

P
|
P

-
x
Q

-
x
F

-
x
D

-
x
A

-
x
I

-
x
D

-
x
E

Y
x
L

M
x
L

T
|
T

A
x
G

Y
x
R

E
|
E

N
x
H

L
|
L

K
x
Y

L
|
L

V
x
Y

C
x
A

G
x
R

I
x
L

K
x
R

G
|
G

A
x
V

P
|
P

L
x
A

E
|
E

K
x
E

I
|
I

D
x
E

E
x
K

-
x
V

-
x
A

-
x
N

-
x
W

K
x
S

L
x
I

E
x
K

L
x
S

V
x
L

G
|
G

L
|
L

L
x
T

E
x
V

R
x
Y

K
x
A

D
|
D

S
x
C

K
x
L

F
x
A

K
x
G

T
|
T

Y
|
Y

S
|
S

L
x
G

G
|
G

M
x
N

K
|
K

Q
x
R

R
x
K

L
|
L

A
x
S

I
x
T

A
|
A

S
x
I

A
|
A

L
|
L

L
x
I

N
x
G

D
x
C

P
|
P

E
x
P

I
x
L

L
x
V

I
x
L

L
|
L

D
|
D

E
|
E

P
|
P

T
|
T

N
x
T

G
|
G

L
x
M

D
|
D

P
|
P

Q
|
Q

G
x
A

I
x
R

R
|
R

Q
x
M

I
x
L

R
x
W

D
x
N

I
x
V

I
|
I

R
x
V

H
x
S

I
|
I

A
x
I

S
x
R

L
x
E

G
|
G

T
x
R

T
x
A

I
x
V

L
x
V

L
|
L

A
x
T

S
|
S

H
|
H

L
x
S

L
x
M

D
x
E

E
|
E

V
x
C

E
|
E

K
x
A

V
x
L

C
|
C

S
x
T

H
x
R

V
x
L

V
x
A

V
x
I

L
x
M

R
x
V

K
|
K

G
|
G

V
x
A

V
x
F

L
x
R

Y
x
C

T
x
M

G
|
G

T
|
T

V
x
I

N
x
Q

G
x
H

M
x
L

I
x
K

S
|
S

N
x
K

E
x
F

G
|
G

G1961 (≠ E26) to E: in STGD1, FFM and CORD3; risk factor for ARMD2; also found in patients with cone dystrophy and with macular dystrophy; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553; to R: in STGD1; uncertain significance; dbSNP:rs142253670
L1970 (≠ I35) to F: in ARMD2, FFM and STGD1; also found in a patient with cone dystrophy; dbSNP:rs28938473
L1971 (= L36) to R: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis; dbSNP:rs61753034
1972:1980 (vs. 37:45, 67% identical) binding ATP
G1975 (= G40) mutation to D: Inhibition of retinal-stimulated ATP hydrolysis.
G1977 (= G42) to S: in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750639
K1978 (= K43) mutation to M: Inhibits ATPase activity; when associated with M-969. Decreases translocase activity; when associated with M-969. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-969. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect ATP-independent N-retinylidene-PE binding. Does not affect ATP-dependent of N-retinylidene-PE release. Significantly reduces PE flippase activity. Inhibition of retinal-stimulated ATP hydrolysis.
C2017 (≠ Y87) to Y: in STGD1; uncertain significance
I2023 (vs. gap) to T: in STGD1; uncertain significance; dbSNP:rs150633517
L2027 (≠ M90) to F: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity; dbSNP:rs61751408
R2030 (≠ Y93) to Q: in STGD1 and FFM; dbSNP:rs61750641
H2032 (≠ N95) to R: in STGD1; uncertain significance; dbSNP:rs1242866408
L2033 (= L96) to R: in STGD1; uncertain significance; dbSNP:rs1553186896
R2038 (≠ G101) to W: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs61750643
R2040 (≠ K103) to Q: in STGD1; uncertain significance; dbSNP:rs148460146
V2042 (≠ A105) to G: in STGD1; uncertain significance
P2043 (= P106) to S: in CORD3; uncertain significance; dbSNP:rs763230559
V2050 (vs. gap) to L: in STGD1 and CORD3; may act as a modifier of macular dystrophy in patients who also have a Trp-172 mutation in PRPH2; dbSNP:rs41292677
G2059 (= G118) natural variant: G -> A
A2064 (≠ K123) to T: in STGD1; uncertain significance; dbSNP:rs61753040
GG 2073:2074 (≠ LG 132:133) binding ATP
G2074 (= G133) to V: in STGD1; uncertain significance; dbSNP:rs367839100
R2077 (≠ Q136) to W: in STGD1; highly reduced ATP-binding capacity; decreases solubility at 50 %; loss of intracellular vesicle localization; drastically reduced basal activity with little or no substrate stimulation; dbSNP:rs61750645
K2078 (≠ R137) to E: in STGD1; uncertain significance
E2096 (= E155) to K: in STGD1; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750646; mutation to Q: Does not affect protein folding; when associated with Q-1087. Loss of ATPase activity; when associated with Q-1087.
P2097 (= P156) to S: in STGD1; uncertain significance; dbSNP:rs1166357291
R2106 (≠ I165) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750648
R2107 (= R166) to C: in STGD1; uncertain significance; dbSNP:rs2297669; to H: in STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs62642564; mutation to P: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
E2131 (≠ D190) to K: in STGD1; uncertain significance; dbSNP:rs61750652
L2140 (≠ V199) to Q: in STGD1; uncertain significance; dbSNP:rs774475956
C2150 (≠ Y209) to Y: in STGD1 and CORD3; dbSNP:rs61751384

Sites not aligning to the query:

14 N → K: in STGD1; uncertain significance
18 R → P: in STGD1; uncertain significance; dbSNP:rs868543294
21:2273 natural variant: Missing (in STGD1; uncertain significance)
24 R → H: in STGD1; uncertain significance; dbSNP:rs62645958
53:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs764744217)
54 modified: Disulfide link with 81
55 H → R: in CORD3; uncertain significance
63 S → P: in CORD3; uncertain significance
65 G → E: in STGD1 and CORD3; dbSNP:rs62654395
72 G → R: in STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation; dbSNP:rs61751412; G → V: in STGD1; uncertain significance; dbSNP:rs2101162548
75 modified: Disulfide link with 324
81 modified: Disulfide link with 54
89:2273 natural variant: Missing (in STGD1; uncertain significance)
96 N → H: in STGD1; uncertain significance; dbSNP:rs61748529; N → K: in STGD1; uncertain significance; dbSNP:rs886039297
97 Y → C: in STGD1; uncertain significance; dbSNP:rs755691060
98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
100 S → P: in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61748530
107:2273 natural variant: Missing (in CORD3; uncertain significance; dbSNP:rs765429911)
108 D → V: in STGD1; uncertain significance; dbSNP:rs1662508600
143 P → L: in STGD1; uncertain significance; dbSNP:rs62646860
172 G → S: in STGD1; uncertain significance; dbSNP:rs61748532
184 S → F: in STGD1; uncertain significance; S → R: in STGD1; uncertain significance
185:2273 natural variant: Missing (in STGD1; uncertain significance)
206 S → R: in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis; dbSNP:rs61748536
212 R → C: in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity; dbSNP:rs61750200; R → H: in dbSNP:rs6657239
218:2273 natural variant: Missing (in CORD3; uncertain significance)
219:2273 natural variant: Missing (found in a patient with chorioretinal atrophy; uncertain significance)
223 K → Q: in STGD1; uncertain significance; dbSNP:rs147619585
224 T → M: in a breast cancer sample; somatic mutation; dbSNP:rs373540612
240 I → R: in STGD1; uncertain significance; dbSNP:rs1553195472
241 E → D: in STGD1; uncertain significance
245:2273 natural variant: Missing (in STGD1; uncertain significance)
246 A → T: in STGD1; uncertain significance; dbSNP:rs1662207986
290 R → W: in STGD1; uncertain significance; dbSNP:rs781716640
291 P → L: in STGD1; uncertain significance; dbSNP:rs190540405
320 S → C: in CORD3; uncertain significance
324 modified: Disulfide link with 75
326:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs747540967)
339:2273 natural variant: Missing (in CORD3; uncertain significance)
345 Y → S: in STGD1; uncertain significance; dbSNP:rs1417184535
370 modified: Disulfide link with 519
407 A → V: in STGD1 and CORD3; dbSNP:rs61751264
410 I → T: in STGD1; uncertain significance
415 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N → K: in STGD1; uncertain significance; dbSNP:rs1661605073
418 F → S: in STGD1; uncertain significance; dbSNP:rs794726979
423 H → R: in dbSNP:rs3112831
424 V → A: in STGD1 and RP19; uncertain significance; dbSNP:rs1661603358
431:2273 natural variant: Missing (in STGD1; uncertain significance)
440 Y → C: in CORD3; uncertain significance; dbSNP:rs770439859
444 modified: carbohydrate, N-linked (GlcNAc...) asparagine
455 L → M: in RP19; uncertain significance; dbSNP:rs764170051
471 E → K: in ARMD2 and STGD1; uncertain significance; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548
498 D → E: in STGD1; uncertain significance; dbSNP:rs1661575300
504 modified: carbohydrate, N-linked (GlcNAc...) asparagine
508 R → C: in STGD1; uncertain significance; dbSNP:rs138157885
511 R → C: in STGD1; uncertain significance; dbSNP:rs752786160
519 modified: Disulfide link with 370; C → R: in STGD1; uncertain significance; dbSNP:rs1224959251
533:2273 natural variant: Missing (in STGD1; uncertain significance)
541 L → P: in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect intracellular vesicle localization; significantly reduces substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61751392
548 W → R: in STGD1; uncertain significance
552 V → I: in RP19; uncertain significance; dbSNP:rs145525174
572:2273 natural variant: Missing (in STGD1; uncertain significance)
576 D → H: found in a patient with pattern dystrophy; uncertain significance; dbSNP:rs374224955
593 P → L: in STGD1; uncertain significance
603 Y → C: in STGD1; uncertain significance
605:2273 natural variant: Missing (in CORD3; uncertain significance)
608 F → I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752398
616 E → K: in STGD1; uncertain significance; dbSNP:rs1557787473
636 Q → K: in CORD3; uncertain significance
639:2273 natural variant: Missing (in STGD1; uncertain significance)
640 P → L: in STGD1; uncertain significance; dbSNP:rs760790294
641 modified: Disulfide link with 1490, Interchain; C → S: in STGD1; uncertain significance; dbSNP:rs61749416
643 V → G: in CORD3; uncertain significance; dbSNP:rs61754024
653 R → C: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61749420; R → H: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs141823837
661 L → R: in CORD3; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
681:2273 natural variant: Missing (found in a patient with macular dystrophy; uncertain significance)
686 L → S: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752402
690 G → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding; dbSNP:rs942734318
700:2273 natural variant: Missing (in STGD1; uncertain significance)
716 T → M: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749426
754 F → S: in STGD1; uncertain significance
764 C → Y: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749428
765 S → N: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749429; S → R: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61752404
767 V → D: in STGD1; also found in a patient with macular dystrophy; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61751395
779:2273 natural variant: Missing (in STGD1; uncertain significance)
782:2273 natural variant: Missing (in STGD1; uncertain significance)
797 L → P: in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749432
808:2273 natural variant: Missing (in STGD1; uncertain significance)
816 G → V: in STGD1; uncertain significance
818 G → E: in STGD1; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61750202
821 W → R: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs61749433
824 I → T: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding; dbSNP:rs1660942697
840 M → R: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding
846 D → H: severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding; dbSNP:rs61754027
849 V → A: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749435
851 G → D: in STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding; dbSNP:rs61749436
854 A → T: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases N-Ret-PE binding in the range of 40-70%; dbSNP:rs61749437
863 G → A: in STGD1, FFM and CORD3; also found in a patient with bull's eye maculopathy; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis; significantly attenuates 11-cis-retinal binding; decreases about 80% the N-retinylidene-phosphatidylethanolamine transport activity; stimulates modestely the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding. Does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs76157638; natural variant: Missing (in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis)
876:2273 natural variant: Missing (in STGD1; uncertain significance)
901 T → A: in dbSNP:rs61754030
914 natural variant: H -> R
940 P→R: Decreases 11-cis-Retinal binding affinity by 50%.
943 R → Q: risk factor for STGD1; risk factor for ARMD2; decreases 11-cis-Retinal binding affinity by 100-fold; dbSNP:rs1801581; R → W: in STGD1 and FFM; dbSNP:rs61749446
954 Y → D: in STGD1; uncertain significance; dbSNP:rs61749447
959 T → I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
963:970 binding ATP
965 N → S: in STGD1; reduced retinal-stimulated ATP hydrolysis; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; decreases about 60% the N-retinylidene-phosphatidylethanolamine transfer activity; stimulates modestly the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding; does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity; dbSNP:rs201471607; N → Y: in STGD1; uncertain significance; dbSNP:rs61749449
966 G→D: Abolishes basal and retinal-stimulated ATP hydrolysis.
969 K→M: Abolishes basal and retinal-stimulated ATP hydrolysis.; K→M: Inhibits ATPase activity; when associated with M-1978. Decreases translocase activity; when associated with M-1978. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-1978. Loss of ATP-dependent all-trans-retinal transport; when associated with M-1978. Loss in N-retinylidene-PE transfer activity. Inhibits ATPase activity with increasing retinal concentration. Does not affect N-retinylidene-PE binding. Impairs ATP-dependent release of N-retinylidene-PE. Significantly reduces PE flippase activity.
970 T → P: in STGD1; uncertain significance; dbSNP:rs1570377849
971 T → N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
972 T → N: in STGD1; uncertain significance; dbSNP:rs61749451
973 L → S: in STGD1; uncertain significance
977 T → P: in STGD1; uncertain significance; dbSNP:rs1660625648
978 G → D: in STGD1; uncertain significance; dbSNP:rs61749453
991 G → R: in FFM and STGD1; dbSNP:rs61749455
1022 E → G: in STGD1; uncertain significance; E → K: in STGD1; uncertain significance; dbSNP:rs61749459
1029:2273 natural variant: Missing (in STGD1; uncertain significance)
1038 A → V: in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis; decreases solubility at 70%; does not affect intracellular vesicle localization; significantly reduces substrate binding in the absence of ATP; reduces basal ATPase activity; dbSNP:rs61751374
1050 G → D: in STGD1; uncertain significance; dbSNP:rs61750062
1054 binding ATP
1071 S → L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
1074 I → L: in STGD1; uncertain significance
1078 G → E: in STGD1; uncertain significance; dbSNP:rs1660532440
1087 E→Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
1091 G → E: in FFM and STGD1; decreases solubilized at 70%; does not affect intracellular vesicle localization; does not affect substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation; dbSNP:rs61752417
1094 P → T: in STGD1; uncertain significance
1097 R → S: in STGD1; uncertain significance; dbSNP:rs61750118
1098 R → C: in STGD1; uncertain significance; dbSNP:rs756840095
1099 S → P: in STGD1; uncertain significance; dbSNP:rs61750119
1099:2273 natural variant: Missing (in STGD1; uncertain significance)
1102 D → Y: in dbSNP:rs138641544
1108 R → C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
1122 E → K: in STGD1 and CORD3; dbSNP:rs61751399
1129 R → C: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs779426136; R → L: in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity; dbSNP:rs1801269
1130 I → T: in STGD1; uncertain significance; dbSNP:rs1064793010
1140 C → W: in STGD1; uncertain significance; dbSNP:rs2101048569
1145 L → H: in CORD3; uncertain significance
1148 natural variant: K -> T
1159 L → S: in STGD1; uncertain significance; dbSNP:rs1340749727
1161 R → H: in STGD1; uncertain significance; dbSNP:rs768278935
1177:2273 natural variant: Missing (in STGD1; uncertain significance)
1183 G → C: in CORD3; uncertain significance; dbSNP:rs75267647
1201 L → R: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs61750126
1203 G → E: in CORD3; uncertain significance; dbSNP:rs146786552; G → R: in STGD1; uncertain significance
1204 D → N: in STGD1; uncertain significance; dbSNP:rs61750127
1209 M → T: in dbSNP:rs76258939
1253 T → M: in FFM; uncertain significance; dbSNP:rs61752424
1300 R → Q: in STGD1; uncertain significance; dbSNP:rs61750129
1300:2273 natural variant: Missing (in STGD1; uncertain significance; dbSNP:rs61752427)
1314 P → T: in dbSNP:rs61754041
1332:2273 natural variant: Missing (in STGD1; uncertain significance)
1357 A→T: Decreases solubility at 50%. Loss of intracellular vesicle localization. Does not affect substrate binding. Reduces basal ATPase activity.
1368 R → C: in CORD3; uncertain significance; dbSNP:rs1183074086
1371 K → N: in STGD1; uncertain significance
1380 P → L: in STGD1; also found in a patient with chorioretinal atrophy; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61750130
1399 E → K: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs62642573
1408 W → L: in STGD1; does not affect secondary structure; decreases structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750134; W → R: in STGD1; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750135
1408:2273 natural variant: Missing (in STGD1; uncertain significance)
1416 natural variant: Missing (in STGD1; uncertain significance)
1428 T → M: in dbSNP:rs1800549
1442 N → K: in STGD1; uncertain significance; dbSNP:rs762150575
1443 R → H: in STGD1; loss of the majority of alpha-helical secondary structure; does not bind all-trans-retinal; does not affect conformational change; dbSNP:rs61750142
1444 modified: Disulfide link with 1455
1453:2273 natural variant: Missing (in STGD1; uncertain significance)
1455 modified: Disulfide link with 1444
1461:2273 natural variant: Missing (in STGD1; uncertain significance)
1469 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1479:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61752434)
1484 P → S: in STGD1; uncertain significance; dbSNP:rs1660139125
1488 modified: Disulfide link with 1502; C → R: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; does not affect secondary structure; oss of structural flexibility; significantly decreases all-trans-retinal binding; dbSNP:rs61750146
1490 modified: Disulfide link with 641, Interchain; C → Y: in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61751402
1502 modified: Disulfide link with 1488; C→R: Moderately decreased protein abundance. Moderately decreased ATPase activity. Moderately decreased phospholipid translocase activity.
1503 P → L: in STGD1; uncertain significance
1511 P → H: in STGD1; uncertain significance; dbSNP:rs886046564
1512 P → R: in STGD1; uncertain significance; dbSNP:rs61750150
1526 T → M: in STGD1; also found in a patient with chorioretinal atrophy; reduced retinal-stimulated ATP hydrolysis; dbSNP:rs61750152
1529 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1537 T → M: in STGD1; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs62642575
1551 natural variant: Missing (in STGD1; uncertain significance)
1556 R → T: in STGD1; uncertain significance; dbSNP:rs1385119665
1557 Y → C: found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs1401716074
1562 I → T: in STGD1, FFM, ARMD2 and CORD3; uncertain significance; dbSNP:rs1762111
1572 T → M: in dbSNP:rs185093512
1588 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1591 G → R: in STGD1; uncertain significance; also found in a patient with macular dystrophy; uncertain significance; dbSNP:rs113106943
1598 A → D: in CORD3 and STGD1; uncertain significance; dbSNP:rs61750155
1618:2273 natural variant: Missing
1623 G → V: in dbSNP:rs1571257969
1637 A → T: in dbSNP:rs61754056
1640 R → Q: in STGD1, FFM and CORD3; dbSNP:rs61751403; R → W: in STGD1 and CORD3; dbSNP:rs61751404
1650:2273 natural variant: Missing (in CORD3; uncertain significance)
1652:2273 natural variant: Missing (in STGD1 and FFM; uncertain significance)
1662 modified: carbohydrate, N-linked (GlcNAc...) asparagine
1681:1685 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
1696 S → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; increases N-Ret-PE binding; dbSNP:rs61750564
1703 Q → E: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs61750565; Q → K: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity
1705 R → L: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753021; R → Q: in STGD1; uncertain significance; dbSNP:rs61753021
1724:2273 natural variant: Missing (in STGD1; uncertain significance)
1754 Y → D: in STGD1; uncertain significance
1761:1763 natural variant: Missing (in STGD1; highly reduced ATP-binding capacity)
1762 A → D: in STGD1; uncertain significance; dbSNP:rs121909206
1773 A → E: found in a patient with chorioretinal atrophy; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs760549861; A → V: in STGD1; uncertain significance; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; dbSNP:rs760549861
1775 I → N: in STGD1; uncertain significance; dbSNP:rs771742619
1779 Y → H: in STGD1; uncertain significance
1779:2273 natural variant: Missing (in STGD1; uncertain significance)
1794 A → D: in STGD1; also found in a patient with bull's eye maculopathy; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs61751406; A → P: in STGD1; uncertain significance; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases solubility below 50%; significantly reduces N-Ret-PE binding in the absence of ATP; dbSNP:rs1571252997
1805 N → D: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs61753029
1817 E → D: in dbSNP:rs1029950404
1838 H → D: in STGD1; uncertain significance; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → N: in STGD1; uncertain significance; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases basal ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; dbSNP:rs62642562; H → Y: in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; dbSNP:rs62642562; H→R: Severely decreases solubility. Loss of cytoplasmic vesicle localization. Decreases basal ATPase activity below 50%. Loss of N-Ret-PE-induced stimulation in ATPase activity.
1843 R → W: in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; does not affect N-Ret-PE binding; dbSNP:rs62642576
1868 N → I: risk factor for STGD1; slightly reduced retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; does not affect N-Ret-PE binding; dbSNP:rs1801466
1882 M → I: in CORD3; uncertain significance; dbSNP:rs752160946
1886 G → E: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs62642579
1898 R → C: does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; dbSNP:rs201357151; R → H: in STGD1 and ARMD2; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; Increases N-Ret-PE binding; dbSNP:rs1800552
1921 V → G: in STGD1; uncertain significance
1940 L → P: in STGD1 and FFM; dbSNP:rs61753033
1942 E → Q: in STGD1; uncertain significance; dbSNP:rs760353830
1948 P → L: in dbSNP:rs56142141; natural variant: P -> S
2030:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61751383)
2040:2273 natural variant: Missing (in STGD1; uncertain significance; also found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs61753038)
2177 D → N: in CORD3, ARMD2 and STGD1; uncertain significance; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555
2180 P→L: Does not affect protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
2188 F → S: in STGD1; uncertain significance; dbSNP:rs61750658
2216 A → V: in dbSNP:rs886044763
2221 L → P: in STGD1; uncertain significance; dbSNP:rs1367504380
2237 T → P: in STGD1; uncertain significance; dbSNP:rs1659051890
2244:2249 Essential for ATP binding and ATPase activity
2255 S → I: in dbSNP:rs6666652

Query Sequence

>WP_035132493.1 NCBI__GCF_000769915.1:WP_035132493.1
METILTINNLHKKFRHVHAVNNVSFEIKKGNVYGILGPNGSGKSTTLGIILNVVNKTSGS
YSWFNGDLETHDALKKVGAIIERPNFYPYMTAYENLKLVCGIKGAPLEKIDEKLELVGLL
ERKDSKFKTYSLGMKQRLAIASALLNDPEILILDEPTNGLDPQGIRQIRDIIRHIASLGT
TILLASHLLDEVEKVCSHVVVLRKGVVLYTGTVNGMISNEGFFELEANDKQSLKTILQQH
PAIDKIEENESKLIVYLKESLEAADLNKYLSSQGIYLSHLVKRQYSLEEQFIQLTSSAK

Or try a new SitesBLAST search

SitesBLAST's Database

SitesBLAST's database includes (1) SwissProt entries with experimentally-supported functional features; and (2) protein structures with bound ligands, from the BioLip database.

by Morgan Price, Arkin group
Lawrence Berkeley National Laboratory