Variant position: 260 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 349 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 FEDDTVTEYIYHCNVQTPSG ETAFKNMTIPYGWAKRPMLQR
Mouse FEDDTVTEYIYHCNVQTPSG ETAFKNMTIPYGWAKRPMLQR
Rat FEDDTVTEYIYHCNVQTPSG ETAFKNMTIPYGWAKRPMLQR
Pig FEDDTVTEYIYHCNVQTPSG ETAFKNMTIPYGWAKRPMLHR
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
2 – 349 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefevre C.; Jobard F.; Caux F.; Bouadjar B.; Karaduman A.; Heilig R.; Lakhdar H.; Wollenberg A.; Verret J.-L.; Weissenbach J.; Oezguec M.; Lathrop M.; Prud'homme J.-F.; Fischer J.;
Am. J. Hum. Genet. 69:1002-1012(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; TISSUE SPECIFICITY; VARIANTS CDS LYS-7; PRO-130 AND LYS-260;
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.
Lass A.; Zimmermann R.; Haemmerle G.; Riederer M.; Schoiswohl G.; Schweiger M.; Kienesberger P.; Strauss J.G.; Gorkiewicz G.; Zechner R.;
Cell Metab. 3:309-319(2006)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260;
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
Ghosh A.K.; Ramakrishnan G.; Chandramohan C.; Rajasekharan R.;
J. Biol. Chem. 283:24525-24533(2008)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS CDS PRO-130 AND LYS-260;
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