UniProtKB/Swiss-Prot Q5TCH4: Variant p.Gly130Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 130 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 Glycine (G) to Serine (S) at position 130 (G130S, p.Gly130Ser). 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: Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0 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 CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs2056900 [ dbSNP | Ensembl ]

Sequence information

Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 519 The length of the canonical sequence.
Location on the sequence: GRSDPKSHGSYKFLAPRIGY G LLLLNGQTWFQHRRMLTPAF 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	5 – 519	Cytochrome P450 4A22

Literature citations

Functional variant of CYP4A11 20-hydroxyeicosatetraenoic acid synthase is associated with essential hypertension.
Gainer J.V.; Bellamine A.; Dawson E.P.; Womble K.E.; Grant S.W.; Wang Y.; Cupples L.A.; Guo C.-Y.; Demissie S.; O'Donnell C.J.; Brown N.J.; Waterman M.R.; Capdevila J.H.;
Circulation 111:63-69(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANTS TRP-126; SER-130; TYR-152; ASN-226; SER-230; ARG-231; PRO-428 AND PHE-509; Genetic polymorphisms and haplotype structures of the CYP4A22 gene in a Japanese population.
Hiratsuka M.; Nozawa H.; Katsumoto Y.; Moteki T.; Sasaki T.; Konno Y.; Mizugaki M.;
Mutat. Res. 599:98-104(2006)
Cited for: VARIANTS CYS-11; TRP-126; SER-130; TYR-152; PHE-185; ARG-231; THR-276; PRO-428 AND PHE-509;