Variant position: 422 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 LDFQITPKTVSNLTESSS--ES VQSFLQSMITAVGIPEVMSRL
Chicken VDSQIEFKVFNCTADPSGNDQS VRNFLQKMISAVGIPEVIS
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 Cholesteryl ester transfer protein
413 – 413 N-linked (GlcNAc...) asparagine
433 – 433 V -> R. Reduces activity by 60%.
420 – 432
Cloning and sequencing of human cholesteryl ester transfer protein cDNA.
Drayna D.; Jarnagin A.S.; McLean J.; Henzel W.; Kohr W.; Fielding C.; Lawn R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; FUNCTION; TISSUE SPECIFICITY; VARIANT ILE-422;
Rieder M.J.; da Ponte S.H.; Kuldanek S.A.; Rajkumar N.; Smith J.D.; Toth E.J.; Nickerson D.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ILE-422;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ILE-422;
Dinchuk J.E.; Hart J.T.; Wirak D.O.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-493 (ISOFORM 2); VARIANT ILE-422;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS SER-331; PRO-390; ILE-422 AND MET-486;
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 GLY-15; MET-385; PRO-390; ILE-422 AND GLN-468;
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