Variant position: 182 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 DFGVFLGWNINNDTWVITEQ LKPLTVNLDFQRNNKTVFKAS
Chimpanzee DFGVFLGWNINNDTWVITEQ LKPLTVNLDFQRNNKTVFKAS
Mouse DFGIFLGWNINNNTWVVTEE LKPLTVNLDFQRNNKTVFKAT
Rat DFGIFLGWNINNNTWVVTEE LKPLTVNLDFQRNNKTVFKAT
Bovine DFGVFLGWNINNDTWVITEE LKPLTVNLDFQRNNKTLFKAT
Caenorhabditis elegans DFGLFMGWDPVLHDWQISQK LRKMIINVNWLKDGKLLYKSN
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
162 – 162 Important for catalytic activity
173 – 173 N-linked (GlcNAc...) asparagine
195 – 195 N-linked (GlcNAc...) asparagine
31 – 340 Interchain (between alpha and beta subunits)
162 – 162 D -> N. Strongly decreased autocatalytic processing. Strongly decreased ceramidase activity.
173 – 173 N -> Q. Loss of ceramide catabolic process.
176 – 176 W -> Q. Moderately decreased autocatalytic processing, but loss of ceramidase activity, when associated with 169-Q--Q-171.
195 – 195 N -> Q. No effect on ceramide catabolic process.
177 – 182
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.
Devi A.R.R.; Gopikrishna M.; Ratheesh R.; Savithri G.; Swarnalata G.; Bashyam M.;
J. Hum. Genet. 51:811-814(2006)
Cited for: VARIANT FRBRL VAL-182;
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.