Variant position: 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 395 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 VSCAVAQHAPPWTEDC----RKST YPPSGPTYRGAVPWYTINLDL
Chimpanzee VSCAVAQHAPPWTEDC----RKST YPPSGPTYRGPVPWYTI
Mouse VTCAQAQDVPPWTEDC----RKST YPPSGPTYRGPVPWHTI
Rat VTCAQAQQVPPWTEDC----RKST YPPSGPTYRGPVPWYTI
Bovine VTCLVAQQVPPWTEDC----RKST YPPSGPTYRGPVPWYTI
Caenorhabditis elegans CAAKHVELPAPFKDHCILDDKQNL YDPSKQF---DIKWYDV
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
22 – 142 Acid ceramidase subunit alpha
31 – 340 Interchain (between alpha and beta subunits)
42 – 42 T -> TVFPAVIR. In isoform 3.
36 – 38
Molecular analysis of acid ceramidase deficiency in patients with Farber disease.
Bar J.; Linke T.; Ferlinz K.; Neumann U.; Schuchman E.H.; Sandhoff K.;
Hum. Mutat. 17:199-209(2001)
Cited for: VARIANTS FRBRL CYS-36 AND ASP-320;
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