SitesBLAST

P265 (≠ A5) to Q: in MPS3C; likely benign; does not influence stability; does not influence activity; does not influence cellular localization of the enzyme
G290 (≠ D30) to R: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
H297 (= H40) active site; mutation to A: Loss of enzymatic activity, but correctly targeted and processed.
N301 (≠ H44) to K: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
P311 (= P54) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
C333 (≠ A76) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
R372 (= R113) 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 (≠ Y151) 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 (≠ R170) mutation to S: Complete loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
L473 (vs. gap) to P: in MPS3C; shows practically no enzyme activity
H479 (≠ T174) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
E499 (= E194) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
V509 (≠ A204) to L: in MPS3C; likely benign; no loss of enzymatic activity
M510 (≠ T205) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
G514 (= G209) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
A517 (= A212) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S546 (= S239) 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: in MPS3C; likely benign; no loss of enzymatic activity; dbSNP:rs73569592
S567 (≠ T250) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S569 (= S252) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
D590 (= D273) to V: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
P599 (≠ G281) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
H633 (≠ Y327) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
A643 (≠ F337) 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.

Query Sequence

>N515DRAFT_0596 FitnessBrowser__Dyella79:N515DRAFT_0596
MNAAARRLASVDALRGCTVAAMLLVNDPGDWSHVYWPLEHAQWHGCTPTDLVFPFFLFVV
GVSVALAIAPRMEQGADRGALMRAALVRALRIVGLGLLINAAAALILPDAHMRIPGVLQR
IGICFAAAAAFQLYANGRVQWSAIAALLAGYAGLLALGGTLEPFQNIVSRTDTTVFGHFA
YRYFPATGLGHDPEGLLGTLPSIATSLLGLRAGHWLRRDDRRALLLSGVAYVLLGAMWSL
LQPLNKNLWTPSFVLWTAGWATLALLAFHLLVDLRGWPALGRRFGVNAVAAYAGSEFMQI
LLPGLGIQDPLYRSVFAGWITPLAGPYVASLAFAVTFVAVWWAIVWAMDRRRIYLKL

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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