Variant position: 222 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 SSFAGYVGMLTGFKPGLFSL TLNERFSINGGYLGILEWILG-
Chimpanzee SSFAGYVGMLTGFKPGLFSL SLNERFSINGGYLGILEWILG
Mouse TSFVGYVGMLTGFKPGLFSL SLNERFSINGGYLGILEWMFG
Rat TSFAGYVGMLTGFKPGLLSL TLNERFSLNGGYLGILEWMFG
Bovine TTFAGYVGMLTGFKPGLFSV TLNERFSIDGGFMGVMEWILG
Caenorhabditis elegans NNFAGYIGIYNGLKPNAFSL TADDRFQLVGGYYGILKWVFG
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
31 – 340 Interchain (between alpha and beta subunits)
219 – 225
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;
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;
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.