Variant position: 246 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 RFSINGGYLGILEWILG-KKD VMWIGFLTRTVLENSTSYEEA
Chimpanzee RFSINGGYLGILEWILG-KKD AMWIGFLTRTVLENSTSYEE
Mouse RFSINGGYLGILEWMFG-RKD AQWVGFITRSVLENTTSYEE
Rat RFSLNGGYLGILEWMFG-KKN AQWVGFITRSVLENSTSYEE
Bovine RFSIDGGFMGVMEWILG-KKD AQWVGFIIRSVLENSTSYEE
Caenorhabditis elegans RFQLVGGYYGILKWVFGLEAD GKWMSWLARETLETKTTYLD
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
259 – 259 N-linked (GlcNAc...) asparagine
31 – 340 Interchain (between alpha and beta subunits)
259 – 259 N -> Q. Loss of ceramide catabolic process.
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease.
Koch J.; Gaertner S.; Li C.M.; Quintern L.E.; Bernardo K.; Levran O.; Schnabel D.; Desnick R.J.; Schuchman E.H.; Sandhoff K.;
J. Biol. Chem. 271:33110-33115(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; VARIANT FRBRL LYS-222; VARIANTS MET-72; VAL-93 AND ALA-246; GLYCOSYLATION; CATALYTIC ACTIVITY;
A new gene family predicted by a novel human heart cDNA.
Churchill J.R.; Wieland S.J.; Hoffman S.; Gallin E.K.; Murphy P.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-72; VAL-93 AND ALA-246;
Human acid ceramidase gene: novel mutations in Farber disease.
Zhang Z.; Mandal A.K.; Mital A.; Popescu N.; Zimonjic D.; Moser A.; Moser H.; Mukherjee A.B.;
Mol. Genet. Metab. 70:301-309(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS FRBRL HIS-22; ASP-23; VAL-138; LYS-222 AND ASP-320; VARIANTS MET-72; VAL-93 AND ALA-246;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3); VARIANTS MET-72; VAL-93 AND ALA-246;
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