Variant position: 380 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 493 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 PEVQLSSMTMDARLSAKMAL RGKALRTQLDLRRFRIYSNHS
Mouse PEVELSKMIMEGRLSAKLTL RGKALRVKLDLRRFQIYSNQS
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
18 – 493 Phospholipid transfer protein
398 – 398 N-linked (GlcNAc...) asparagine
400 – 400 S -> A. Significant reduction in phospholipid transfer activity. Reduced secretion.
Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANTS GLN-282; HIS-372 AND TRP-380;
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