SitesBLAST

G290 (≠ S28) to R: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
H297 (= H38) active site; mutation to A: Loss of enzymatic activity, but correctly targeted and processed.
N301 (≠ H42) to K: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
P311 (= P52) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
C333 (≠ T74) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
R372 (= R109) 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 (≠ L136) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
W431 (= W148) 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 (≠ Q177) to P: in MPS3C; shows practically no enzyme activity
H479 (= H182) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
E499 (= E193) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
V509 (= V203) to L: in MPS3C; likely benign; no loss of enzymatic activity
M510 (≠ T204) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
G514 (= G208) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
A517 (≠ C211) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
S546 (≠ G232) to F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
K551 (≠ F237) to Q: in MPS3C; likely benign; no loss of enzymatic activity; dbSNP:rs73569592
S567 (≠ T254) 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 (= P287) 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
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

Query Sequence

>Echvi_1106 FitnessBrowser__Cola:Echvi_1106
MPKQRILALDVFRGITIFAMILVNNPGSWSHVYAPLLHAKWHGCTPTDLIFPFFLFIVGV
AIELSLGGQLKKGTPKGFLLRKSLIRALKLIGLGLLLTAIPYFDLAHLRFPGVLQRIGLV
YFISTVMYLYWSPKALVFSSGILLIGYWLCMTFIPVPGIGPANLEPGTNLAAWIDQQVLT
GHMWSQTKTWDPEGLFSTLPAIVTCLLGVACGKILTGNSSHKARLTKWGIAGVTLVFGGL
AWSLFFPLNKALWTSSFVLYTAGWAFLGLAACYWILDVKGWKKWSLPFVIYGMNAITVFF
LSGVIAKLFGLIKVNWEGTRVSLKLFLQEALFNGWLAPKDASLCGAILMMIILFIPAYFM
WKRNIIIKV

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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