Sequence information
Variant position: 526 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 550 The length of the canonical sequence.
Location on the sequence:
SLFLGNGVLLCFYSQEWYAR
Q HCPLKNPTFLDYVRPRSWTC
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 SLFLGNGVLLCFYSQEWYARQ HCPLKNPTFLDYVRPRSWTC
Mouse SLFLGYGLILCFYSQEWYARQ HCPLKNPTFLDYVRPRTWTC
Rat SLFLGHGVILCFYSQEWYARQ RCPLKNPTFLDYVRPRTWTC
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
Chain
1 – 550
Sterol O-acyltransferase 1
Transmembrane
497 – 528
Helical; Name=9
Mutagenesis
507 – 507
L -> A. Strongly reduced cholesterol O-acyltransferase activity.
Mutagenesis
518 – 518
Y -> F. Loss of enzymatic activity.
Turn
524 – 527
Literature citations
Molecular cloning and functional expression of human acyl-coenzyme A:cholesterol acyltransferase cDNA in mutant Chinese hamster ovary cells.
Chang C.C.Y.; Huh H.Y.; Cadigan K.M.; Chang T.-Y.;
J. Biol. Chem. 268:20747-20755(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-526;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.