Variant position: 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 522 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 FEQVRFLMKSYSFLREAVPG TLRARRGEGIQAPSFSSYLYF
Mouse FEQVRLLMKSYSFLRETVPG IFCVRGGKGISPPSFSSYLYF
Rat FEQVRFLMKSYSFLRETVPG IFCVRGGKGICTPSFSSYLYF
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
1 – 522 Sterol O-acyltransferase 2
253 – 293 Cytoplasmic
236 – 261 Missing. In isoform 3.
242 – 242 K -> R. In K-null mutant; does not affect ubiquitination and sterol-regulated stabilization; when associated with R-49, R-80, R-100, R-102, R-108 and R-299.
254 – 254 T -> A. Does not affect ubiquitination and sterol-regulated stabilization; when associated with R-279.
Immunological quantitation and localization of ACAT-1 and ACAT-2 in human liver and small intestine.
Chang C.C.Y.; Sakashita N.; Ornvold K.; Lee O.; Chang E.T.; Dong R.; Lin S.; Lee C.-Y.G.; Strom S.C.; Kashyap R.; Fung J.J.; Farese R.V. Jr.; Patoiseau J.-F.; Delhon A.; Chang T.-Y.;
J. Biol. Chem. 275:28083-28092(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-254;
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] (ISOFORMS 1 AND 4); VARIANTS GLY-14 AND ILE-254;
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