Variant position: 255 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 HWHIVDDQSFPYQSITFPEL SNKGSYSLSHVYTPNDVRMVI
Mouse HWHIVDDQSFPYQSTTFPEL SNKGSYSLSHVYTPNDVRMVL
Rat HWHIVDDQSFPYQSITFPEL SNKGSYSLSHVYTPNDIHMVL
Pig HWHIVDDQSFPYQSINFGVL SSKGSYSLSHVYTPNDVRMVI
Cat HWHIVDDQSFPYQSVTFPEL SNKGSYSLSHVYTPNDVHTVI
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
122 – 311 Beta-hexosaminidase subunit beta chain B
253 – 258
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
Fujimaru M.; Tanaka A.; Choeh K.; Wakamatsu N.; Sakuraba H.; Isshiki G.;
Hum. Genet. 103:462-469(1998)
Cited for: VARIANT GM2G2 ARG-255;
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