Variant position: 417 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 556 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 TINKGSIVWQEVFDDKAKLA PGTIVEVWKDSAYPEELSRVT
Mouse SLKKNSIVWQEVFDDKVELQ PGTVVEVWKSEHYSYELKQVT
Rat SLKKSSIVWQDVFDDQVELQ PGTVVEVWKSENYLNELAQVT
Pig AMKKRPIVWQEAFDGRDKFM PGTVVQVWKIEDYKWEQSLIT
Cat TVKKGSIVWQEVFDDHVKLL PGTIVQVWKNQVYTEELREVT
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
122 – 556 Beta-hexosaminidase subunit beta
315 – 556 Beta-hexosaminidase subunit beta chain A
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.
Wakamatsu N.; Kobayashi H.; Miyatake T.; Tsuji S.;
J. Biol. Chem. 267:2406-2413(1992)
Cited for: VARIANT GM2G2 LEU-417;
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
Gomez-Lira M.; Sangalli A.; Mottes M.; Perusi C.; Pignatti P.F.; Rizzuto N.; Salviati A.;
Hum. Genet. 96:417-422(1995)
Cited for: VARIANTS GM2G2 TYR-309 AND LEU-417;
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