Variant position: 505 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 EACLWGEYVDATNLTPRLWP RASAVGERLWSSKDVRDMDDA
Mouse EACLWGEFVDATNLTPRLWP RASAVGERLWSPKTVTDLENA
Rat EACLWGEYVDATNLIPRLWP RASAVGERLWSPRIITNLENA
Pig EACLWGEYVDATNLTPRLWP RASAVGERLWSHKDVRDIHDA
Cat EACLWGEFVDATNLTPRLWP RASAVGERLWSPEDITSVGNA
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.
Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme.
Bolhuis P.A.; Ponne N.J.; Bikker H.; Baas F.; Vianney de Jong J.M.B.;
Biochim. Biophys. Acta 1182:142-146(1993)
Cited for: VARIANT GM2G2 GLN-505;
Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I.; Mahuran D.J.; Salvayre R.; Dubas F.; Levade T.;
Biochim. Biophys. Acta 1317:127-133(1996)
Cited for: VARIANT GM2G2 GLN-505; VARIANT VAL-207;
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