UniProtKB/Swiss-Prot P37268: Variant p.Lys45Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 45 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B The variants are classified into three categories: LP/P, LB/B and US.

• LP/P: likely pathogenic or pathogenic.
• LB/B: likely benign or benign.
• US: uncertain significance

Residue change: From Lysine (K) to Arginine (R) at position 45 (K45R, p.Lys45Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

• Lowest score: -4 (low probability of substitution).
• Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description: Influences plasma cholesterol levels; associated with increased total cholesterol and non-high-density lipoprotein cholesterol. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs4731 [ dbSNP | Ensembl ]

Sequence information

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: RKVMPKMDQDSLSSSLKTCY K YLNQTSRSFAAVIQALDGEM 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.
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 – 417	Squalene synthase
Binding site	52 – 52
Alternative sequence	1 – 111	Missing. In isoform 4.
Alternative sequence	1 – 85	Missing. In isoform 3.
Alternative sequence	1 – 64	Missing. In isoform 2.
Helix	38 – 51

Literature citations

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;