Variant position: 397 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 677 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VTLEKLKTVGAALDILCPSG PIKSLYPLTFIQVKQHYGFVL
Mouse VALRKFKTVAEALGILCPNG PVKSLYPLTFTQVKQYFGYVL
Bovine VALNKLKTVEDALNILCPSG PIKSVYPLTFIDVKQYFGFVL
Cat VALQKLKTVEDALNVLCPAG PIKSLYPLTFIQVKQYFGFVL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
29 – 677 Beta-galactosidase
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D.; Paul K.; Fantur K.; Beck M.; Buerger F.; Caillaud C.; Fumic K.; Ledvinova J.; Lugowska A.; Michelakakis H.; Radeva B.; Ramaswami U.; Plecko B.; Paschke E.;
Hum. Mutat. 30:1214-1221(2009)
Cited for: VARIANTS GM1G1 HIS-59; THR-132; ARG-184; ASP-190; CYS-201; HIS-201; MET-239; HIS-255; ILE-329; GLU-332; ASN-346; GLN-442 AND SER-597; VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333; VARIANTS GM1G3 MET-82; ASP-270 AND GLU-438; VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500; CHARACTERIZATION OF VARIANTS GM1G1 THR-132; ARG-184; ASP-190; CYS-201; HIS-201; HIS-255; ILE-329; GLU-332 AND SER-597; CHARACTERIZATION OF VARIANTS GM1G2 GLN-68; ARG-155 AND HIS-333; CHARACTERIZATION OF VARIANTS GM1G3 ASP-270 AND GLU-438; CHARACTERIZATION OF VARIANTS MPS4B PHE-149; TYR-198; LEU-273; ALA-397; PRO-408 AND ALA-500; CATALYTIC ACTIVITY; FUNCTION;
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