Variant position: 333 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 RWYVVQTNYDRWKHPFFLDD RRTPAKMCLNRTSQENISFET
Chimpanzee RWYVVQTNYDRWKHPFFLDD RRTPAKMCLNRTSQENISFET
Mouse RWYVVQTNYDRWKNTLFIDD RRTPAKKCLNHTTQKNLSFAT
Rat RWYVVQTNYDRWKNTLFLDD RRTPAKKCLNHTTQKNLSFAT
Bovine RWYVVQTNYDRWKNPFFLDD RRTPAKMCLNQTTQENISFAT
Caenorhabditis elegans GWYLLETNYDQGTEDLYLDD RDTPGFRCMDKLTQKNVGFEG
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
143 – 395 Acid ceramidase subunit beta
320 – 320 Important for catalytic activity
333 – 333 Important for catalytic activity
342 – 342 N-linked (GlcNAc...) asparagine
348 – 348 N-linked (GlcNAc...) asparagine
31 – 340 Interchain (between alpha and beta subunits)
320 – 320 N -> A. Strongly decreased autocatalytic processing. Mildly decreased ceramidase activity.
333 – 333 R -> Q. Mildly decreased autocatalytic processing. Loss of ceramidase activity.
342 – 342 N -> Q. Loss of ceramide catabolic process.
348 – 348 N -> Q. No effect on ceramide catabolic process.
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.
Kim S.Y.; Choi S.A.; Lee S.; Lee J.S.; Hong C.R.; Lim B.C.; Kang H.J.; Kim K.J.; Park S.H.; Choi M.; Chae J.H.;
Am. J. Med. Genet. A 170:3023-3027(2016)
Cited for: VARIANTS FRBRL ARG-235 AND CYS-333;
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