SitesBLAST

R372 (= R110) 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 (vs. gap) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

G452 (≠ D163) 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 (≠ A173) mutation to S: Complete loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.

L473 (≠ V178) to P: in MPS3C; shows practically no enzyme activity

H479 (= H183) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.

E499 (= E195) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

V509 (≠ A205) to L: likely benign variant; no loss of enzymatic activity

M510 (≠ Q206) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

G514 (= G210) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

A517 (≠ I213) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

S546 (vs. gap) to F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

K551 (vs. gap) to Q: no loss of enzymatic activity; dbSNP:rs73569592

S567 (= S254) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum

S569 (= S256) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity

D590 (= D277) to V: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity

P599 (≠ A289) 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: likely benign variant; does not influence stability; does not influence activity; does not influence cellular localization of the enzyme

633 H→A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.

643 A → T: in RP73 and MPS3C; unknown pathological 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

query
sites
Q3UDW8

R

R

L

L

I

R

S

C

L

V

D

D

V

T

L

F

R

R

G

G

L

L

T

A

V

L

A

V

G

L

M

M

I

V

L

F

V

V

N

N

A

Y

A

G

G

G

M

K

K

Y

Y

W

G

-

A

-

E

-

A

-

D

-

V

-

A

-

P

-

I

Y

L

F

L

K

H

H

K

S

S

S

W

W

E

N

G

G

L

L

T

T

L

V

A

A

D

D

L

L

V

V

F

F

P

P

A

W

F

F

L

V

T

F

M

I

V

M

G

G

I

T

A

S

I

I

P

F

F

L

S

S

L

M

R

T

Q

S

R

I

A

L

A

Q

T

R

G

G

A

C

P

S

T

K

-

L

-

K

-

L

G

G

P

K

I

I

L

V

S

W

R

R

T

S

G

F

R

L

L

L

I

I

L

C

L

I

G

G

F

V

I

I

L

I

S

V

N

N

L

P

Y

N

W

Y

F

C

A

-

D

-

F

L

G

G

D

P

R

L

D

S

W

W

-

D

-

K

-

V

R

R

L

I

F

P

G

G

V

V

L

L

Q

Q

R

R

I

L

G

G

L

V

V

T

Y

Y

G

F

A

V

C

V

A

A

L

V

L

L

-

E

F

F

L

F

F

F

A

W

G

K

P

P

R

V

V

P

R

D

M

S

A

C

L

T

I

L

A

E

V

S

L

S

-

C

-

F

-

S

-

L

-

R

-

D

L

I

I

T

G

S

Y

S

W

W

P

P

-

Q

-

W

-

L

-

T

-

I

-

L

-

T

-

L

-

E

-

S

-

I

-

W

-

L

-

A

L

L

A

T

L

F

P

L

A

P

L

V

D

P

G

G

L

C

P

P

N

T

-

G

-

Y

-

L

-

G

-

P

-

G

-

I

-

G

D

D

I

L

W

G

Q

K

R

Y

G

P

H

H

N

C

F

T

-

G

-

A

V

A

A

G

S

Y

V

I

D

D

R

R

V

L

L

L

G

G

D

D

H

N

L

H

Y

L

V

Y

K

Q

G

H

P

P

E

S

G

S

-

T

-

V

-

L

-

Y

-

H

-

T

-

E

-

V

-

A

Y

Y

D

D

P

P

E

E

G

G

I

V

L

L

G

G

T

T

L

I

P

N

A

S

I

I

A

V

Q

M

G

A

L

F

I

L

G

G

I

V

A

Q

I

A

G

G

E

K

L

I

L

L

L

V

K

Y

R

Y

E

K

G

D

Q

Q

R

T

T

K

R

A

L

I

L

L

L

T

A

R

A

F

G

A

A

A

-

W

-

C

-

I

-

L

-

G

-

L

-

I

A

S

M

I

L

V

A

L

A

T

G

K

I

V

A

S

W

A

S

N

F

E

A

G

F

F

-

I

P

P

I

I

V

N

K

K

D

N

I

L

W

W

S

S

S

I

S

S

F

Y

V

V

L

T

V

T

T

L

A

S

G

C

I

F

T

A

V

F

L

F

T

I

L

L

A

L

V

I

L

L

H

Y

H

P

V

V

L

V

D

D

R

V

E

K

G

G

R

L

A

W

P

T

G

G

I

-

A

-

T

T

A

P

M

F

L

F

A

Y

F

P

G

G

A

M

N

N

A

S

I

I

A

L

A

V

Y

Y

T

V

L

G

H

H

Q

E

V

V

T

L

S

E

G

N

V

Y

-

F

-

P

V

F

T

Q

W

W

D

K

L

L

L

A

L

D

L

E

P

Q

F

S

H

H

A

K

T

E

R

H

A

-

A

L

I

I

G

Q

D

N

P

I

I

V

A

A

S

T

L

A

F

L

P

W

V

V

L

L

I

I

Y

A

I

Y

V

V

L

L

I

Y

W

K

A

K

M

L

E

F

W

W

Sites not aligning to the query:

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

Query Sequence

>Ga0059261_1643 FitnessBrowser__Korea:Ga0059261_1643
MRLISLDVLRGLTVAGMILVNAAAGMKYGAEADVAPILLHKSWEGLTLADLVFPAFLTMV
GIAIPFSLRQRAATGAPTGPILSRTGRLILLGFILSNLYWFADFGDRDWRLFGVLQRIGL
VYGACALLFLFAGPRVRMALIAVLLIGYWPLALLPALDGLPNDIWQRGHNFVASVDRVLL
GDHLYVKGPEGYDPEGILGTLPAIAQGLIGIAIGELLLKREGQRTRLLLAAGAAMLAAGI
AWSFAFPIVKDIWSSSFVLVTAGITVLTLAVLHHVLDREGRAPGIAATAMLAFGANAIAA
YTLHQVTSGVVTWDLLLLPFHATRAAIGDPIASLFPVLIYIVLIWAAMEWLRRKGWIIKI

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

SitesBLAST – Find functional sites

SitesBLAST

Query Sequence

SitesBLAST's Database