Variant position: 235 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 KPGLFSLTLNERFSINGGYL GILEWILG-KKDVMWIGFLTRT
Chimpanzee KPGLFSLSLNERFSINGGYL GILEWILG-KKDAMWIGFLTR
Mouse KPGLFSLSLNERFSINGGYL GILEWMFG-RKDAQWVGFITR
Rat KPGLLSLTLNERFSLNGGYL GILEWMFG-KKNAQWVGFITR
Bovine KPGLFSVTLNERFSIDGGFM GVMEWILG-KKDAQWVGFIIR
Caenorhabditis elegans KPNAFSLTADDRFQLVGGYY GILKWVFGLEADGKWMSWLAR
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)
231 – 240
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.
Muramatsu T.; Sakai N.; Yanagihara L.; Yamada M.; Nishigaki T.; Kokubu C.; Tsukamoto H.; Ito M.; Inui K.;
J. Inherit. Metab. Dis. 25:585-592(2002)
Cited for: VARIANTS FRBRL VAL-96 DEL; GLU-97 AND ARG-235; CHARACTERIZATION OF VARIANTS FRBRL VAL-96 DEL; GLU-97 AND ARG-235; VARIANT ILE-369; CATALYTIC ACTIVITY;
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;
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.