SitesBLAST

276 C→A: Lower ATPase activity and transport efficiency.
297 mutation E->K,D: Lower ATPase activity and transport efficiency.; E→Q: Loss of ATPase activity and transport.

8i6rB Cryo-em structure of pseudomonas aeruginosa ftse(e163q)x/envc complex with atp in peptidisc (see paper)
33% identity, 43% coverage: 18:233/505 of query aligns to 7:220/222 of 8i6rB

query
sites
8i6rB

I

V

G

G

K

K

R

R

F
x
Y

-

P

Q

N

G

G

V
x
H

V

V

A

G

L

L

Q

H

D

E

V

V

G

S

F

F

T

R

V

V

R

H

P

R

G

G

E

E

V

I

M

L

A

F

L

V

L

T

G

G

E

H

N
x
S

G

G

A
|
A

G
|
G

K
|
K

S
|
S

T
|
T

L

L

V

L

K

R

I

L

L

I

T

L

G

A

I

M

H

E

Q

R

P

P

D

T

E

S

G

G

S

K

I

L

H

L

L

L

G

G

R

Q

E

D

V

L

-

G

R

R

F

I

A

T

S

T

A

A

Q

Q

-

I

D

P

A

F

M

L

R

R

G

R

G

Q

I

I

T

G

A

V

V

V

H

F

Q

Q

E

N

T

H

V

Q

M

L

F

L

E

T

E

D

L

R

S

T

V

V

A

A

E

D

N

N

I

I

W

A

I

L

G

P

R

L

Q

Q

P

-

L

I

C

L

G

G

T

M

P

P

R

K

R

P

I

E

D

I

W

A

R

K

R

R

M

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E

-

D

-

E

-

A

A

R

S

A

A

L

L

F

-

A

E

R

R

L

V

E

N

V

L

D

K

L

E

P

K

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A

A

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K

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D
|
D

L

L

S
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S

V
x
T

A
x
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Q
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Q

R

Q

H

Q

F

R

V

V

E

G

I

I

A

A

R

R

A

A

L

I

S

V

Q

H

Q

Q

A

P

Q

A

V

L

I

L

M

A

D

D

E

Q

P

P

T

T

A

G

A

N

L

L

S

D

H

P

H

R

E

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I

A

G

S

E

E

L

I

Y

M

R

G

I

V

I

F

G

E

Q

D

L

I

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N

R

R

A

L

G

G

T

T

A

T

V

V

I

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F

I

I

A

S

S

H

H

K

D

F

L

D

A

E

L

I

I

Y

A

A

R

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M

A

R

D

H

R

R

Y

M

T

L

V

T

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A

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D

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E

E

binding adenosine-5'-triphosphate: Y11 (≠ F22), H15 (≠ V25), S37 (≠ N47), A39 (= A49), G40 (= G50), K41 (= K51), S42 (= S52), T43 (= T53), D137 (= D150), S139 (= S152), T140 (≠ V153), G141 (≠ A154), Q142 (= Q155)
binding magnesium ion: K41 (= K51), S42 (= S52)

4u00A Crystal structure of ttha1159 in complex with adp (see paper)
27% identity, 45% coverage: 11:237/505 of query aligns to 1:223/241 of 4u00A

query
sites
4u00A

P

P

V

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S

R

L

I

S

R

G

N

I

L

G

H

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K

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F

Q

G

G

P

V

L

V

H

A
x
V

L

L

Q

K

D

G

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I

G

H

F

L

T

E

V

V

R

A

P

P

G

G

E

E

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K

M

L

A

V

L

I

G

G

E

P

N
x
S

G
|
G

A
x
S

G
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G

K
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K

S
|
S

T
|
T

L

L

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E

Q

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D

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A

A

Q

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D

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M

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Q

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M

L

F

F

E

P

E

H

L

M

S

T

V

V

A

L

E

E

N

N

I

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W

T

I

L

G

A

R

P

Q

M

P

R

L

V

C

R

G

R

T

W

P

P

R

R

R

E

I

-

D

-

W

-

R

-

R

K

M

A

E

E

D

K

E

K

A

A

R

L

A

E

L

L

F

L

A

E

R

R

L

V

E

G

V

I

D

L

L

D

P

Q

V

A

R

R

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K

R

Y

V

P

K

A

D

Q

L

L

S

S

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G

A

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Q

F

R

V

V

E

A

I

I

A

A

R

R

A

A

L

L

S

A

Q

M

Q

E

A

P

Q

K

V

I

V

M

I

L

M

F

D

D

E

E

P

P

T

T

A

S

A

A

L

L

S

D

H

P

H

E

E

M

I

V

G

G

E

E

L

V

Y

L

R

D

I

V

I

M

G

R

Q

D

L

L

R

A

R

Q

A

G

G

G

T

M

A

T

V

M

I

V

F

V

I

V

S

T

H

H

K

E

F

M

D

G

E

F

I

A

Y

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A

E

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A

A

D

D

R

R

Y

V

T

V

V

F

L

M

R

D

D

G

G

G

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Q

F

I

I

V

A

E

S

E

G

G

E

R

L

P

A

E

D

E

I

I

binding adenosine-5'-diphosphate: F12 (= F22), V17 (≠ A27), S37 (≠ N47), G38 (= G48), S39 (≠ A49), G40 (= G50), K41 (= K51), S42 (= S52), T43 (= T53)

4yerA Crystal structure of an abc transporter atp-binding protein (tm_1403) from thermotoga maritima msb8 at 2.35 a resolution
28% identity, 48% coverage: 12:251/505 of query aligns to 4:231/285 of 4yerA

query
sites
4yerA

V

I

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I

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V

L

V

S

E

G

N

I

L

G

V

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K

R

K

F
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F

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x
F

V

E

A

A

L

V

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K

D

G

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G

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F

F

T

S

V

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R

K

P

K

G

G

E

E

V

I

M

F

A

A

L

F

L

L

G

G

E

P

N
|
N

G
|
G

A

A

G
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G

K
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K

S
x
T

T
|
T

L

T

V

I

K

H

I

M

L

L

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T

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K

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P

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A

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D

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E

E

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T

V

A

A

Y

E

E

N

N

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P

-

L

I

C

Y

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E

I

K

D

L

W

K

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K

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M

I

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L

A

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E

A

F

L

V

F

E

A

L

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F

V

K

D

D

L

K

P

P

V

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R

-

A

-

R

-

V

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K

D
x
T

L
x
F

S
|
S

V

G

A

G

Q

M

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H

R

F

R

V

L

E

E

I

I

A

A

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M

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T

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G

L

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D

H

P

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I

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N

A

M

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T

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Y

F

M

D

D

E

E

I

A

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L

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A

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I

binding adenosine-5'-diphosphate: F14 (= F22), F17 (≠ V25), N39 (= N47), G40 (= G48), G42 (= G50), K43 (= K51), T44 (≠ S52), T45 (= T53), T135 (≠ D150), F136 (≠ L151), S137 (= S152)

7e7oA Cryo-em structure of human abca4 in nrpe-bound state (see paper)
29% identity, 41% coverage: 26:232/505 of query aligns to 823:1021/2003 of 7e7oA

query
sites
7e7oA

V

I

A

A

L

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D

D

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N

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N

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A

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L

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G

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H

N

N

G

G

A

A

G

G

K

K

S

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T

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I

L

L

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T

G

G

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A

-

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A

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Q

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M

M

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D

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E

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A

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A

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Q

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D

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M

D

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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

P41233 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; EC 7.6.2.1 from Mus musculus (Mouse) (see paper)
29% identity, 41% coverage: 26:232/505 of query aligns to 914:1113/2261 of P41233

query
sites
P41233

V

V

A

A

L

V

Q

D

D

G

V

L

G

A

F

L

T

N

V

F

R

Y

P

E

G

G

E

Q

V

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M

T

A

S

L

F

L

L

G

G

E

H

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

V

M

K

S

I

I

L

L

T

T

G

G

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H

F

Q

P

P

P

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T

E

S

G

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A

H

Y

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G

L

G

G

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K

E

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F

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A

-

S

S

A

E

Q

M

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S

A

S

M

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R

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Q

G

N

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G

A

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K

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V

W

K

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M

M

E

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D

Q

E

M

A

A

R

-

A

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L

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F

-

A

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R

-

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L

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D

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V

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G

L

L

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P

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P

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K

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A

A

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G

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K

L

Y

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A

-

G

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A

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I

I

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F

L

I

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S

T

H

H

K

H

F

M

D

D

E

E

I

A

Y

D

A

I

V

L

A

G

D

D

R

R

Y

I

T

A

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H

G

G

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K

F

L

I

C

A

C

S

V

G

G

Sites not aligning to the query:

489 modified: carbohydrate, N-linked (GlcNAc...) asparagine

O95477 Phospholipid-transporting ATPase ABCA1; ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein; EC 7.6.2.1 from Homo sapiens (Human) (see 35 papers)
29% identity, 41% coverage: 26:232/505 of query aligns to 914:1113/2261 of O95477

query
sites
O95477

V

V

A

A

L

V

Q
x
D

D

G

V

L

G

A

F

L

T

N

V

F

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Y

P

E

G

G

E

Q

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M
x
T

A

S

L

F

L

L

G

G

E

H

N
|
N

G

G

A

A

G

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K
|
K

S

T

T

T

L

T

V

M

K

S

I

I

L

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T

T

G

G

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P

P

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G

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A

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Y

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L

G

G

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K

E

D

V

I

R

R

F

-

A

-

S

S

A

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M

D

S

A

T

M

I

R

R

G

Q

G

N

I

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G

A

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H

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Q

E

H

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N

V

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F

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M

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A

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E

N

H

I

I

W

W

I

F

G

Y

R

A

Q

R

P

-

L

L

C

K

G

G

T

L

P

S

R

E

R

K

I

H

D

V

W

K

R

A

R

E

M

M

E

E

D

Q

E

M

A

A

R

-

A

-

L

-

F

-

A

-

R

-

L

L

E

D

V

V

D

G

L

L

P

P

-

S

-

K

V

L

R

K

A

S

R

K

V

T

K

S

D

Q

L

L

S

S

V

G

A

G

Q

M

R

Q

H

R

F

K

V

L

E
x
S

I

V

A

A

R

L

A

A

L

F

S

V

Q

G

A

S

Q

K

V

V

I

I

M

L

D

D

E

E

P

P

T

T

A

A

A

G

L

V

S

D

H
x
P

H

Y

E

S

I

R

G

R

E

G

L

I

Y

W

R

E

I

L

G

L

Q

K

L

Y

R

R

R

Q

A

-

G

G

T

R

A

T

V

I

I

I

F

L

I

S

S

T

H

H

K

H

F
x
M

D

D

E

E

I

A

Y

D

A

V

V

L

A

G

D

D

R

R

Y

I

T

A

V

I

L

I

R

S

D

H

G

G

R

K

F

L

I
x
C

A
x
C

S

V

G

G

D917 (≠ Q29) to Y: in a colorectal cancer sample; somatic mutation
T929 (≠ M41) to I: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane
N935 (= N47) to S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs28937313
K939 (= K51) mutation to M: Inhibits ATPase activity; when associated with M-1952. Decreases translocase activity; when associated with M-1952. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-1952.
S1042 (≠ E160) modified: Phosphoserine; by PKA
P1065 (≠ H183) natural variant: P -> S
M1091 (≠ F210) to T: in FHA1; loss of localization to plasma membrane; decreased cholesterol efflux; decreased phospholipid efflux
C1110 (≠ I229) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1111.
C1111 (≠ A230) modified: S-palmitoyl cysteine; mutation to S: Decreased palmitoylation; when associated with S-3, S-23 and S-1110.

Sites not aligning to the query:

3 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased cholesterol efflux. Decreased phospholipid efflux. Decreased palmitoylation; when associated with S-23, S-1110 and S-1111.
23 modified: S-palmitoyl cysteine; C→S: Mild decrease of palmitoylation. Loss of localization to plasma membrane. Decreased palmitoylation; when associated with S-3, S-1110 and S-1111.
74 I→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.; I→K: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-371.
75 modified: Disulfide link with 309
85 P → L: in FHA1; Alabama; dbSNP:rs145183203
98 modified: carbohydrate, N-linked (GlcNAc...) asparagine
100 S→C: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
210 E → D: in a colorectal cancer sample; somatic mutation
219 R → K: in dbSNP:rs2230806
230 R → C: in dbSNP:rs9282541
244 modified: carbohydrate, N-linked (GlcNAc...) asparagine
248 P → A: in dbSNP:rs142625938
255 A → T: in TGD; deficient cellular cholesterol efflux; dbSNP:rs758100110
304 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-308.
308 V→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane; when associated with C-304.
309 modified: Disulfide link with 75
364 S → C: in dbSNP:rs775035559
371 I→C: No effect on phospholipid and cholesterol efflux or localization to cell membrane. 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-74 or C-375.; I→E: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-74.
375 L→C: 85-90% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with C-371.
399 V → A: in dbSNP:rs9282543
401 K → Q: in dbSNP:rs138487227
496 R → W: in dbSNP:rs147675550
568 K→A: 60-65% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane.
573 Y→F: No effect on phospholipid and cholesterol efflux and on localization to cell membrane.
581 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-584 and K-585.
583 F→K: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with E-590.
584 E→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-585.
585 D→K: 80-85% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-581 and K-584.
590 W → S: in TGD; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs137854496; W→E: 90-95% reduction in phospholipid and cholesterol efflux but no effect on localization to cell membrane; when associated with K-583.
593 F→L: Moderately decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
638 R → Q: in dbSNP:rs374190304
771 V → M: in dbSNP:rs2066718
774 T → P: in dbSNP:rs35819696; natural variant: T -> S
776 K → N: in dbSNP:rs138880920
815 E → G: in dbSNP:rs145582736
825 V → I: in dbSNP:rs2066715
883 I → M: in dbSNP:rs2066714
1172 E → D: in dbSNP:rs33918808
1181 S → F: in dbSNP:rs76881554
1216 G → V: in dbSNP:rs562403512
1341 R → T: in dbSNP:rs147743782
1376 S → G: in dbSNP:rs145689805
1379 L → F: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
1407 A → T: in a colorectal cancer sample; somatic mutation; dbSNP:rs189206655
1463 modified: Disulfide link with 1477
1477 modified: Disulfide link with 1463; C → R: in TGD; loss of interaction with APOE; unable to generate APOE-containing high density lipoproteins; moderately decreased protein abundance; moderately decreased ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs137854494
1512 T→M: Moderately decreased protein abundance. Does not affect ATPase activity. Moderately decreased phospholipid translocase activity.
1555 I → T: in dbSNP:rs1997618
1587 K → R: in dbSNP:rs2230808
1611 N → D: in FHA1; deficient cellular cholesterol efflux
1615 R → Q: in dbSNP:rs1251839800
1648 L → P: in dbSNP:rs1883024
1670 A → T: in dbSNP:rs1203589782
1680 R → Q: in dbSNP:rs150125857
1704 V → D: in TGD; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane
1731 S → C: in dbSNP:rs760507032
1897 R → W: in FHA1; uncertain significance; dbSNP:rs760768125
1925 R → Q: in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906
1952 K→M: Inhibits ATPase activity; when associated with M-939. Decreases translocase activity; when associated with M-939. Does not affect protein subcellular localization in plasma membrane and endosome; when associated with M-939.
2054 modified: Phosphoserine; by PKA
2081 R → W: in TGD; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; loss protein subcellular localization to the plasma membrane; dbSNP:rs137854501
2109 A → T: in a colorectal cancer sample; somatic mutation
2150 P → L: in FHA1; moderately decreased protein abundance; does not affect ATPase activity; moderately decreased phospholipid translocase activity; dbSNP:rs369098049
2163 natural variant: F -> S
2168 L → P: in dbSNP:rs2853577
2243 D → E: in dbSNP:rs34879708
2244 V → I: in dbSNP:rs144588452

7lkpA Structure of atp-free human abca4 (see paper)
29% identity, 42% coverage: 23:232/505 of query aligns to 744:945/1941 of 7lkpA

query
sites
7lkpA

Q

K

G

N

V

L

V

V

A

K

L

I

Q

D

D

R

V

L

G

N

F

I

T

T

V

F

R

Y

P

E

G

N

E

Q

V

I

M

T

A

A

L

F

L

L

G

G

E

H

N

N

G

G

A

A

G

G

K

K

S

T

T

T

L

T

V

L

K

S

I

I

L

L

T

T

G

G

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L

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S

G

G

S

T

I

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L

V

G

G

R

R

E

D

V

I

R

E

F

-

A

-

S

T

A

S

Q

L

D

D

A

A

M

V

R

R

G

Q

G

S

I

L

T

G

A

M

V

C

H

P

Q

Q

E

H

T

N

V

I

M

L

F

F

E
x
H

E

H

L

L

S

T

V

V

A

A

E

E

N

H

I

M

W

L

I

F

G

Y

R

A

Q

Q

P

-

L

L

C

K

G

G

T

K

P

S

R

Q

R

E

I

E

D

A

W

Q

R

L

R

E

M

M

E

E

D

-

E

-

A

-

R

-

A

A

L

M

F

L

A

E

R

D

L

T

E

G

V

L

D

H

L

H

P

K

V

R

R

N

A

E

R

E

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A

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x
Q

D

D

L

L

S

S

V

G

A

G

Q

M

R

Q

H

R

F

K

V

L

E

S

I

V

A

A

R

I

A

A

L

F

S

V

Q

G

Q

D

A

A

Q

K

V

V

I

I

M

L

D

D

E

E

P

P

T

T

A

S

A

G

L

V

S

D

H

P

H

Y

E

S

I

R

G

R

E

S

L

I

Y

W

R

D

I

L

G

L

Q

K

L

Y

R

-

R

R

A

S

G

G

T

R

A

T

V

I

I

I

F

M

I

S

S

T

H

H

K

H

F

M

D

D

E

E

I

A

Y

D

A

L

V

L

A

G

D

D

R

R

Y

I

T

A

V

I

L

I

R

A

D

Q

G

G

R

R

F

L

I

Y

A

C

S

S

G

G

binding Digitonin: H819 (≠ E100), Q863 (≠ K149)

Sites not aligning to the query:

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

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, 44% coverage: 11:232/505 of query aligns to 927:1142/2273 of P78363

query
sites
P78363

P
|
P

V
x
G

L
x
V

S
x
C

L
x
V

S
x
K

G
x
N

I
x
L

G
x
V

K
|
K

R
x
I

F
|
F

Q
x
E

-
x
P

-
x
C

G
|
G

V
x
R

V
x
P

A
|
A

L
x
V

Q
x
D

D
x
R

V
x
L

G
x
N

F
x
I

T
|
T

V
x
F

R
x
Y

P
x
E

G
x
N

E
x
Q

V
x
I

M
x
T

A
|
A

L
x
F

L
|
L

G
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G

E
x
H

N
|
N

G
|
G

A
|
A

G
|
G

K
|
K

S
x
T

T
|
T

L
x
T

V
x
L

K
x
S

I
|
I

L
|
L

T
|
T

G
|
G

I
x
L

H
x
L

Q
x
P

P
|
P

D
x
T

E
x
S

G
|
G

S
x
T

I
x
V

H
x
L

L
x
V

G
|
G

R
|
R

E
x
D

V
x
I

R
x
E

F

-

A

-

S
x
T

A
x
S

Q
x
L

D
|
D

A
|
A

M
x
V

R
|
R

G
x
Q

G
x
S

I
x
L

T
x
G

A
x
M

V
x
C

H
x
P

Q
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Q

E
x
H

T
x
N

V
x
I

M
x
L

F
|
F

E
x
H

L
|
L

S
x
T

V
|
V

A
|
A

E
|
E

N
x
H

I
x
M

W
x
L

I
x
F

G
x
Y

R
x
A

Q
|
Q

P

-

L
|
L

C
x
K

G
|
G

T
x
K

P
x
S

R
x
Q

R
x
E

I
x
E

D
x
A

W
x
Q

R
x
L

R
x
E

M
|
M

E
|
E

D

-

E

-

A

-

R

-

A
|
A

L
x
M

F
x
L

A
x
E

R
x
D

L
x
T

E
x
G

V
x
L

D
x
H

L
x
H

P
x
K

V
x
R

R
x
N

A
x
E

R
x
E

V
x
A

K
x
Q

D
|
D

L
|
L

S
|
S

V
x
G

A
x
G

Q
x
M

R
x
Q

H
x
R

F
x
K

V
x
L

E
x
S

I
x
V

A
|
A

R
x
I

A
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A

L
x
F

S
x
V

Q
x
G

Q
x
D

A
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A

Q
x
K

V
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V

I
|
I

M
x
L

D
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D

E
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E

P
|
P

T
|
T

A
x
S

A
x
G

L
x
V

S
x
D

H
x
P

H
x
Y

E
x
S

I
x
R

G
x
R

E
x
S

L
x
I

Y
x
W

R
x
D

I
x
L

G
x
L

Q
x
K

L
x
Y

R

-

R
|
R

A
x
S

G
|
G

T
x
R

A
x
T

V
x
I

I
|
I

F
x
M

I
x
S

S
x
T

H
|
H

K
x
H

F
x
M

D
|
D

E
|
E

I
x
A

Y
x
D

A
x
L

V
x
L

A
x
G

D
|
D

R
|
R

Y
x
I

T
x
A

V
x
I

L
x
I

R
x
A

D
x
Q

G
|
G

R
|
R

F
x
L

I
x
Y

A
x
C

S
|
S

G
|
G

P940 (vs. gap) mutation to R: Decreases 11-cis-Retinal binding affinity by 50%.
R943 (≠ V25) to Q: risk factor for STGD1; risk factor for ARMD2; decreases 11-cis-Retinal binding affinity by 100-fold; dbSNP:rs1801581; to W: in STGD1 and FFM; dbSNP:rs61749446
Y954 (≠ R36) to D: in STGD1; uncertain significance; dbSNP:rs61749447
T959 (≠ M41) to I: in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; dbSNP:rs61752409
963:970 (vs. 45:52, 75% identical) binding
N965 (= N47) to 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; to Y: in STGD1; uncertain significance
G966 (= G48) mutation to D: Abolishes basal and retinal-stimulated ATP hydrolysis.
K969 (= K51) mutation to M: Abolishes basal and retinal-stimulated ATP hydrolysis.; mutation to 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.
T970 (≠ S52) to P: in STGD1; uncertain significance; dbSNP:rs1570377849
T971 (= T53) to N: in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; dbSNP:rs61749450
T972 (≠ L54) to N: in STGD1; uncertain significance; dbSNP:rs61749451
L973 (≠ V55) to S: in STGD1; uncertain significance
T977 (= T59) to P: in STGD1; uncertain significance
G978 (= G60) to D: in STGD1; uncertain significance; dbSNP:rs61749453
G991 (= G73) to R: in FFM and STGD1; dbSNP:rs61749455
E1022 (= E106) to G: in STGD1; uncertain significance; to K: in STGD1; uncertain significance; dbSNP:rs61749459
A1038 (≠ D123) to 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
G1050 (≠ E139) to D: in STGD1; uncertain significance; dbSNP:rs61750062
K1054 (≠ P143) binding
S1071 (≠ E160) to L: in STGD1; reduced ATP-binding capacity; dbSNP:rs61750065
I1074 (≠ R163) to L: in STGD1; uncertain significance
G1078 (≠ Q167) to E: in STGD1; uncertain significance
E1087 (= E176) mutation to Q: Does not affect protein folding; when associated with Q-2096. Loss of ATPase activity; when associated with Q-2096.
G1091 (≠ A180) to 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
P1094 (≠ H183) to T: in STGD1; uncertain significance
R1097 (≠ I186) to S: in STGD1; uncertain significance
R1098 (≠ G187) to C: in STGD1; uncertain significance; dbSNP:rs756840095
S1099 (≠ E188) to P: in STGD1; uncertain significance; dbSNP:rs61750119
D1102 (≠ R191) to Y: in dbSNP:rs138641544
R1108 (= R198) to C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750120
E1122 (= E212) to K: in STGD1 and CORD3; dbSNP:rs61751399
R1129 (= R219) to C: in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs779426136; to L: in ARMD2 and STGD1; also found in patients with fundus flavimaculatus; reduced ATP-binding capacity; dbSNP:rs1801269
I1130 (≠ Y220) to T: in STGD1; uncertain significance; dbSNP:rs1064793010
C1140 (≠ A230) to W: in STGD1; uncertain significance

Sites not aligning to the query:

14 N → K: in STGD1; uncertain significance
18 R → P: in STGD1; uncertain significance
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
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
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
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
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
418 F → S: in STGD1; uncertain significance; dbSNP:rs794726979
423 H → R: in dbSNP:rs3112831
424 V → A: in STGD1 and RP19; uncertain significance
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
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
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
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
1029:2273 natural variant: Missing (in STGD1; uncertain significance)
1099:2273 natural variant: Missing (in STGD1; uncertain significance)
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
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
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; 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 natural variant: E -> D
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
1961 G → 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; G → R: in STGD1; uncertain significance; dbSNP:rs142253670
1970 L → F: in ARMD2, FFM and STGD1; also found in a patient with cone dystrophy; dbSNP:rs28938473
1971 L → R: in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis; dbSNP:rs61753034
1972:1980 binding
1975 G→D: Inhibition of retinal-stimulated ATP hydrolysis.
1977 G → S: in STGD1 and ARMD2; highly reduced ATP-binding capacity; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750639
1978 K→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.
2017 C → Y: in STGD1; uncertain significance
2023 I → T: in STGD1; uncertain significance; dbSNP:rs150633517
2027 L → F: in STGD1 and FFM; also found in a patient with chorioretinal atrophy; highly reduced ATP-binding capacity; dbSNP:rs61751408
2030 R → Q: in STGD1 and FFM; dbSNP:rs61750641
2030:2273 natural variant: Missing (in STGD1 and CORD3; uncertain significance; dbSNP:rs61751383)
2032 H → R: in STGD1; uncertain significance; dbSNP:rs1242866408
2033 L → R: in STGD1; uncertain significance; dbSNP:rs1553186896
2038 R → W: in STGD1; highly reduced ATP-binding capacity; dbSNP:rs61750643
2040 R → Q: in STGD1; uncertain significance; dbSNP:rs148460146
2040:2273 natural variant: Missing (in STGD1; uncertain significance; also found in a patient with chorioretinal atrophy; uncertain significance; dbSNP:rs61753038)
2042 V → G: in STGD1; uncertain significance
2043 P → S: in CORD3; uncertain significance; dbSNP:rs763230559
2050 V → 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
2059 natural variant: G -> A
2064 A → T: in STGD1; uncertain significance; dbSNP:rs61753040
2073:2074 binding
2074 G → V: in STGD1; uncertain significance; dbSNP:rs367839100
2077 R → 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
2078 K → E: in STGD1; uncertain significance
2096 E → K: in STGD1; inhibition of ATP hydrolysis by retinal; dbSNP:rs61750646; E→Q: Does not affect protein folding; when associated with Q-1087. Loss of ATPase activity; when associated with Q-1087.
2097 P → S: in STGD1; uncertain significance; dbSNP:rs1166357291
2106 R → C: in STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs61750648
2107 R → C: in STGD1; uncertain significance; dbSNP:rs2297669; R → H: in STGD1 and CORD3; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine; dbSNP:rs62642564; R→P: Highly decreased protein abundance. Highly decreased ATPase activity. Highly decreased phospholipid translocase activity.
2131 E → K: in STGD1; uncertain significance; dbSNP:rs61750652
2140 L → Q: in STGD1; uncertain significance; dbSNP:rs774475956
2150 C → Y: in STGD1 and CORD3; dbSNP:rs61751384
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
2237 T → P: in STGD1; uncertain significance
2244:2249 Essential for ATP binding and ATPase activity
2255 S → I: in dbSNP:rs6666652

Query Sequence

>HSERO_RS22220 FitnessBrowser__HerbieS:HSERO_RS22220
MRAVADDSTAPVLSLSGIGKRFQGVVALQDVGFTVRPGEVMALLGENGAGKSTLVKILTG
IHQPDEGSIHLGGREVRFASAQDAMRGGITAVHQETVMFEELSVAENIWIGRQPLCGTPR
RIDWRRMEDEARALFARLEVDLPVRARVKDLSVAQRHFVEIARALSQQAQVVIMDEPTAA
LSHHEIGELYRIIGQLRRAGTAVIFISHKFDEIYAVADRYTVLRDGRFIASGELADITEQ
QLVALMVGREVGQVFSRAASNTEDQTAPVLEVKHLSHPSEFDDVSFAVRPGEILGFYGLV
GAGRSEVMHALFGLSPEAQGAVWIDGREVKLCSPAQAIAHGLAYVPEDRQRQGALLSLPI
FQNITLPVLPGIGFFLRRHRRREIDIARRLCEQLELKASHFHQHVAQLSGGNQQKVVLAK
WLATQPRVLILDEPTKGIDIGSKAAVHRFIGELVAQGLAVILVSSELPEVMGMSDRIVVM
HQGRVQQVFSRAEASAEALAAAASG

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