Variant position: 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 417 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 RKVMPKMDQDSLSS-SLKTCY KYLNQTSRSFAAVIQALDGEM
Mouse RNFIPKMDQDSLSS-SLKTCY KYLNQTSRSFAAVIQALDGD
Rat RNFIPKMDRNSLSN-SLKTCY KYLDQTSRSFAAVIQALDGD
Bovine RKVIPKMDQDSLSS-SLKTCY KYLNQTSRSFAAVIQALDGE
Slime mold ESFKPKSQLKENLG-NKEWCY ELLNKTSRSFAFVINELEPS
Baker's yeast RTPLFSIYDQSTSP-YLLHCF ELLNLTSRSFAAVIRELHPE
Fission yeast WNDLPSYGEDENVPQNIRRCY QLLDMTSRSFAVVIKELPNG
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 – 417 Squalene synthase
52 – 52 NADP
1 – 111 Missing. In isoform 4.
1 – 85 Missing. In isoform 3.
1 – 64 Missing. In isoform 2.
38 – 51
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 ARG-45;
K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population.
Do R.; Pare G.; Montpetit A.; Hudson T.J.; Gaudet D.; Engert J.C.;
Hum. Mutat. 29:689-694(2008)
Cited for: VARIANT ARG-45; ASSOCIATION WITH PLASMA CHOLESTEROL LEVELS;
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.