SitesBLAST

G290 (≠ S32) to R: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
H297 (= H42) active site; mutation to A: Loss of enzymatic activity, but correctly targeted and processed.
N301 (≠ I46) to K: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
P311 (= P56) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
C333 (≠ V90) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
R372 (= R118) 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 (≠ I149) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
W431 (≠ A161) 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 (≠ T171) mutation to S: Complete loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
L473 (≠ A180) to P: in MPS3C; shows practically no enzyme activity
H479 (= H186) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
E499 (= E196) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
V509 (≠ A206) to L: in MPS3C; likely benign; no loss of enzymatic activity
M510 (≠ H207) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
G514 (= G211) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
A517 (= A214) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S546 (≠ T239) to F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
K551 (≠ L244) to Q: in MPS3C; likely benign; no loss of enzymatic activity; dbSNP:rs73569592
S567 (= S257) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S569 (= S259) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
D590 (= D280) to V: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
P599 (≠ R289) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
H633 (= H327) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
A643 (≠ F348) to 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

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

Q3UDW8 Heparan-alpha-glucosaminide N-acetyltransferase; Transmembrane protein 76; EC 2.3.1.78 from Mus musculus (Mouse) (see paper)
28% identity, 99% coverage: 5:372/372 of query aligns to 256:656/656 of Q3UDW8

query
sites
Q3UDW8

T

S

S

S

N

A

K

N

R

R

L

L

L

R

A

C

L

V

D

D

V

T

M

F

R

R

G

G

I

L

T

A

I

L

A

V

G

L

M

M

I

V

L

F

V

V

N

N

T

Y

P

G

G

G

S

G

W

-

Q

-

H

-

A

K

Y

Y

A

W

P

Y

L

F

K

K

H

H

A

S

E

S

W

W

I

N

G

G

L

L

T

T

P

V

T

A

D

D

L

L

V

V

F

F

P

P

F

W

F

F

M

V

F

F

I

I

M

M

G

G

I

T

S

S

T

I

Y

F

I

L

S

S

L

M

R

T

K

S

Y

I

N

L

F

Q

T

R

F

G

S

C

V

S

P

K

A

L

G

K

L

L

-

L

-

G

K

K

I

I

L

V

K

W

R

R

T

S

V

F

I

L

F

I

L

C

I

I

G

G

I

V

G

I

I

I

S

V

W

N

L

P

S

N

I

-

L

-

C

-

F

Y

Q

C

H

L

D

G

P

P

F

L

P

S

I

W

D

D

Q

K

I

V

R

R

I

I

L

P

G

G

V

V

M

L

Q

Q

R

R

L

L

A

G

L

V

G

T

Y

Y

G

F

V

V

T

V

A

A

I

V

V

L

A

E

L

F

-

F

-

W

-

K

-

P

-

V

-

P

-

D

-

S

-

C

-

T

-

L

-

E

-

S

-

C

-

F

-

S

-

L

-

R

-

D

M

I

K

T

H

S

K

S

Y

W

I

P

P

Q

Y

W

L

L

I

T

A

I

V

L

L

T

L

L

I

E

S

S

Y

I

F

W

A

L

I

A

L

L

A

T

-

F

-

L

-

P

-

V

-

P

-

G

-

C

-

P

-

T

-

G

-

Y

L

L

G

G

N

P

G

G

-

G

-

I

-

G

-

D

-

L

-

G

-

K

Y

Y

V

P

Y

H

D

C

E

T

T

G

N

G

I

A

L

A

S

G

I

Y

V

I

D

D

R

R

A

L

V

L

L

L

G

G

Q

D

A

N

H

H

I

L

Y

Y

-

Q

-

H

-

P

G

S

Q

T

I

V

L

L

-

Y

-

H

-

T

-

E

-

V

-

A

-

Y

D

D

P

P

E

E

G

G

L

V

L

L

S

G

T

T

I

I

S

N

A

S

I

I

A

V

H

M

V

A

L

F

I

L

G

G

F

V

C

Q

A

A

G

G

K

K

L

I

L

L

M

V

E

Y

V

Y

K

K

D

D

I

Q

H

T

E

K

K

A

-

I

L

L

E

T

R

R

L

F

F

A

L

A

I

W

G

C

T

C

I

I

L

L

T

G

F

L

A

I

G

S

F

I

L

V

L

L

S

T

Y

K

G

V

S

S

-

A

-

N

-

E

-

G

-

F

-

I

P

P

I

I

C

N

K

K

K

N

V

L

W

W

S

S

P

I

S

S

F

Y

V

V

L

T

V

T

T

L

C

S

G

C

L

F

G

A

S

F

F

I

L

L

A

L

L

I

L

L

V

Y

W

P

I

V

D

D

I

V

K

K

G

G

Y

L

K

W

N

T

W

G

S

T

R

P

F

F

E

Y

S

P

F

-

G

G

V

M

N

N

P

S

L

I

F

L

I

V

Y

Y

V

V

L

G

A

H

D

E

I

V

L

L

A

E

I

-

T

-

L

-

A

N

V

Y

I

F

P

P

M

F

T

Q

Y

W

Q

K

G

L

E

A

A

D

T

E

S

Q

L

S

H

H

G

K

Y

-

I

-

Y

-

S

E

A

H

L

L

L

I

Q

Q

P

-

V

-

F

-

G

-

D

-

K

-

G

-

S

N

L

I

V

V

F

A

A

T

L

A

L

L

F

W

V

V

L

L

L

-

N

-

W

-

A

-

I

I

G

A

Y

Y

I

V

L

L

Y

Y

K

K

I

L

Y

F

I

W

K

K

I

I

Sites not aligning to the query:

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

Query Sequence

>353145 FitnessBrowser__Btheta:353145
MNVTTSNKRLLALDVMRGITIAGMILVNTPGSWQHAYAPLKHAEWIGLTPTDLVFPFFMF
IMGISTYISLRKYNFTFSVPAGLKILKRTVIIFLIGIGISWLSILCFQHDPFPIDQIRIL
GVMQRLALGYGVTAIVALLMKHKYIPYLIAVLLISYFAILALGNGYVYDETNILSIVDRA
VLGQAHIYGGQILDPEGLLSTISAIAHVLIGFCAGKLLMEVKDIHEKLERLFLIGTILTF
AGFLLSYGSPICKKVWSPSFVLVTCGLGSSFLALLVWIIDIKGYKNWSRFFESFGVNPLF
IYVLADILAITLAVIPMTYQGEATSLHGYIYSALLQPVFGDKGGSLVFALLFVLLNWAIG
YILYKKKIYIKI

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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