SitesBLAST

H297 (= H84) active site; mutation to A: Loss of enzymatic activity, but correctly targeted and processed.
N301 (= N88) to K: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
P311 (= P98) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
C333 (≠ N124) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
R372 (= R160) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; to H: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
C402 (vs. gap) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
W431 (≠ L195) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
G452 (vs. gap) to S: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; to V: in MPS3C; shows practically no enzyme activity
C462 (vs. gap) mutation to S: Complete loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
L473 (= L228) to P: in MPS3C; shows practically no enzyme activity
H479 (= H235) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
E499 (= E242) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
V509 (≠ A252) to L: in MPS3C; likely benign; no loss of enzymatic activity
M510 (≠ T253) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
G514 (= G257) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
A517 (≠ T260) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S546 (≠ T282) to F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
K551 (≠ L287) to Q: in MPS3C; likely benign; no loss of enzymatic activity; dbSNP:rs73569592
S567 (≠ T306) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S569 (= S308) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
D590 (= D329) to V: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
P599 (= P339) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity

Sites not aligning to the query:

82 A → V: in MPS3C; shows practically no enzyme activity
104 C → F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; loss of intralysosomal proteolytic cleavage
107 C→S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
141 L → P: in MPS3C; shows practically no enzyme activity
142 modified: carbohydrate, N-linked (GlcNAc...) asparagine
151 C→S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
165 L → P: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
179 C→S: Loss of intralysosomal proteolytic cleavage and enzymatic activity.
236 L→A: Displayed both lysosomal and plasma membrane localization, reduced intralysosomal proteolytic cleavage and enzymatic activity; when associated with A-209.
237 I→A: Displayed both lysosomal and plasma membrane localization, reduced intralysosomal proteolytic cleavage and enzymatic activity; when associated with A-208.
265 P → Q: in MPS3C; likely benign; does not influence stability; does not influence activity; does not influence cellular localization of the enzyme
290 G → R: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
633 H→A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
643 A → T: in RP73 and MPS3C; uncertain significance; may act as a modifier of disease severity in patients with retinitis pigmentosa; has a negligible effect on the enzyme expression; moderately reduced enzyme activity; dbSNP:rs112029032

Q3UDW8 Heparan-alpha-glucosaminide N-acetyltransferase; Transmembrane protein 76; EC 2.3.1.78 from Mus musculus (Mouse) (see paper)
28% identity, 68% coverage: 84:360/408 of query aligns to 290:613/656 of Q3UDW8

query
sites
Q3UDW8

H

H

S

S

T

S

W

W

N

N

G

G

F

L

T

T

F

V

Y

A

D

D

L

L

I

V

F

F

P

P

L

W

F

F

I

V

F

F

I

I

S

M

G

G

V

T

A

S

M

I

P

F

F

L

S

S

Y

-

E

-

K

-

H

-

L

M

S

T

T

S

K

I

H

L

D

Q

N

R

Q

G

N

C

S

S

A

K

K

L

S

K

I

L

Y

L

T

G

A

K

L

I

I

V

R

W

R

R

T

S

L

F

I

L

L

L

I

I

I

C

L

I

G

G

M

V

V

I

-

V

-

N

-

P

N

N

G

Y

L

C

L

L

K

G

W

P

Q

L

G

S

Y

W

E

D

A

K

T

V

R

R

F

I

A

P

S

G

V

V

L

L

G

Q

R

R

I

L

A

G

L

V

S

T

T

Y

F

F

F

V

A

V

A

A

L

V

I

L

Y

E

L

F

N

F

F

F

S

W

R

K

-

P

-

V

-

P

-

D

-

S

-

C

-

T

-

L

-

E

-

S

-

C

-

F

-

S

-

L

-

R

-

D

-

I

-

T

-

S

-

W

-

P

-

Q

-

W

-

L

-

T

-

I

-

L

N

T

Q

L

Q

E

I

S

I

I

W

W

L

L

A

A

G

-

I

-

L

-

V

-

G

-

Y

-

I

-

F

L

M

T

I

F

M

F

I

L

P

P

V

V

P

P

G

G

F

C

G

P

N

T

A

G

V

Y

L

L

T

G

P

P

-

G

-

I

-

G

-

D

-

L

-

G

-

K

-

Y

-

P

-

H

-

C

E

T

G

G

N

G

L

A

A

A

A

G

Y

Y

I

I

D

D

R

R

L

L

W

L

L

L

P

-

G

G

K

D

L

N

H

H

-

L

-

Y

-

Q

-

H

-

P

-

S

-

T

-

V

-

L

-

Y

-

H

-

T

R

E

S

V

V

A

Y

Y

D

D

P

P

E

E

G

G

L

V

L

L

S

G

T

T

I

I

P

N

A

S

I

I

A

V

T

M

A

A

L

F

L

L

G

G

V

V

F

Q

T

A

G

G

S

K

F

I

L

L

-

V

H

Y

S

Y

K

K

N

D

N

Q

-

T

-

K

-

A

-

I

-

L

-

T

R

R

F

F

T

A

P

A

N

W

K

C

V

I

I

L

L

G

L

L

L

I

T

S

A

I

G

V

L

L

V

T

L

K

I

V

F

S

A

A

G

N

L

-

F

-

W

-

N

E

I

G

F

F

F

I

P

P

I

I

N

N

K

K

N

N

M

L

W

W

T

S

S

I

S

S

F

Y

V

V

L

T

T

L

G

S

G

C

F

F

S

A

V

F

I

F

L

I

L

L

A

L

L

I

F

L

Y

Y

Y

P

I

V

D

D

I

V

S

K

G

G

H

-

Q

-

K

L

W

W

S

T

-

G

T

T

P

P

F

F

I

F

W

Y

I

P

G

G

T

M

N

N

S

S

I

I

L

L

I

V

Y

Y

V

V

C

G

A

H

H

E

G

V

L

L

F

E

N

N

F

Y

Sites not aligning to the query:

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

Query Sequence

>CA265_RS06730 FitnessBrowser__Pedo557:CA265_RS06730
MPDTETIQQNIHAPEKKRLLSLDALRGFDMFWIISGEGIFHGLASGVMKEHALIRDPSDW
KIATKKSLSFFEELLIGISNQLHHSTWNGFTFYDLIFPLFIFISGVAMPFSYEKHLSTKH
DNQNSAKSIYTALIRRTLILIILGMVVNGLLKWQGYEATRFASVLGRIALSTFFAALIYL
NFSRNQQIIWLAGILVGYYIFMIMIPVPGFGNAVLTPEGNLAAYIDRLWLPGKLHRSVYD
PEGLLSTIPAIATALLGVFTGSFLHSKNNRFTPNKKVILLLTAGLVLIFAGLFWNIFFPI
NKNMWTSSFVLLTGGFSVILLALFYYIIDISGHQKWSTPFIWIGTNSILIYVCAHGLFNF
ESTSQFLFGGIITKLPLIWQQAGLWTGVLLIQLAILKFLYDRKWFLKI

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