UniProtKB/Swiss-Prot P11712: Variant p.Ile359Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 359 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 Isoleucine (I) to Leucine (L) at position 359 (I359L, p.Ile359Leu). 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 medium size and hydrophobic. 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: In allele CYP2C9*3; responsible for the tolbutamide poor metabolizer phenotype. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1057910 [ dbSNP | Ensembl ]

Sequence information

Variant position: 359 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 490 The length of the canonical sequence.
Location on the sequence: MQDRSHMPYTDAVVHEVQRY I DLLPTSLPHAVTCDIKFRNY 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 – 490	Cytochrome P450 2C9
Alternative sequence	163 – 490	Missing. In isoform 2.
Helix	346 – 359

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CYS-144; HIS-150; ARG-251; GLY-272; LEU-359 AND SER-489; Genetic analysis of the human cytochrome P450 CYP2C9 locus.
Stubbins M.J.; Harries L.W.; Smith G.; Tarbit M.H.; Wolf C.R.;
Pharmacogenetics 6:429-439(1996)
Cited for: VARIANTS CYS-144 AND LEU-359; Allelic and functional variability of cytochrome P4502C9.
Bhasker C.R.; Miners J.O.; Coulter S.; Birkett D.J.;
Pharmacogenetics 7:51-58(1997)
Cited for: VARIANTS CYS-144; CYS-358; LEU-359 AND ASP-417; Genetic variation in eleven phase I drug metabolism genes in an ethnically diverse population.
Solus J.F.; Arietta B.J.; Harris J.R.; Sexton D.P.; Steward J.Q.; McMunn C.; Ihrie P.; Mehall J.M.; Edwards T.L.; Dawson E.P.;
Pharmacogenomics 5:895-931(2004)
Cited for: VARIANTS CYS-144; HIS-150; ARG-251; TRP-335; LEU-359; GLU-360 AND PRO-413;