Sequence information
Variant position: 504 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:
GEACLWGEYVDATNLTPRLW
P RASAVGERLWSSKDVRDMDD
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 GEACLWGEYVDATNLTPRLWP RASAVGERLWSSKDVRDMDD
Mouse GEACLWGEFVDATNLTPRLWP RASAVGERLWSPKTVTDLEN
Rat GEACLWGEYVDATNLIPRLWP RASAVGERLWSPRIITNLEN
Pig GEACLWGEYVDATNLTPRLWP RASAVGERLWSHKDVRDIHD
Cat GEACLWGEFVDATNLTPRLWP RASAVGERLWSPEDITSVGN
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
Chain
122 – 556
Beta-hexosaminidase subunit beta
Chain
315 – 556
Beta-hexosaminidase subunit beta chain A
Site
497 – 497
Not glycosylated
Literature citations
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Hou Y.; McInnes B.; Hinek A.; Karpati G.; Mahuran D.;
J. Biol. Chem. 273:21386-21392(1998)
Cited for: VARIANT GM2G2 SER-504; CATALYTIC ACTIVITY; FUNCTION; CHARACTERIZATION OF VARIANT GM2G2 SER-504; SUBCELLULAR LOCATION;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.