Variant position: 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 278 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 SSFYNTKKKFFTSGTVTVQV L------------------------------EAIPTSGLTAADVPALVDTC
Mouse SSFYNVKTKLFTSGTIKVQV L--------------------
Caenorhabditis elegans SLRSDTNQSFILSPVLFVQI VIKTYVPDELSGLVDALADPR
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
24 – 278 1-acyl-sn-glycerol-3-phosphate acyltransferase beta
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
Haque W.; Garg A.; Agarwal A.K.;
Biochem. Biophys. Res. Commun. 327:446-453(2005)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS CGL1 ARG-136; PHE-140 DEL; PRO-228 AND VAL-239;
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal A.K.; Arioglu E.; de Almeida S.; Akkoc N.; Taylor S.I.; Bowcock A.M.; Barnes R.I.; Garg A.;
Nat. Genet. 31:21-23(2002)
Cited for: VARIANTS CGL1 ARG-136; PHE-140 DEL; PRO-228 AND VAL-239;
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