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UniProtKB/Swiss-Prot Q02928: Variant p.Phe434Ser

Cytochrome P450 4A11
Gene: CYP4A11
Variant information

Variant position:  434
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Serine (S) at position 434 (F434S, p.Phe434Ser).
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 large size and aromatic (F) to small size and polar (S)
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

Polymorphism:  CYP4A11v seems to be a rare allelic variant of CYP4A11, it seems to be unstable and not to metabolize lauric acid.
Additional information on the polymorphism described.

Variant description:  Associated with hypertension; significantly reduced arachidonic acid and lauric acid metabolizing activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  434
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:   SIYGLHHNPKVWPNPEVFDP  F RFAPGSAQHSHAFLPFSGGS
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.

TypePositionsDescription
Chain 5 – 519 Cytochrome P450 4A11
Modified residue 440 – 440 Phosphoserine
Alternative sequence 356 – 519 Missing. In isoform 2.


Literature citations

Complete cDNA sequence and cDNA-directed expression of CYP4A11, a fatty acid omega-hydroxylase expressed in human kidney.
Imaoka S.; Ogawa H.; Kimura S.; Gonzalez F.J.;
DNA Cell Biol. 12:893-899(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-434; CHARACTERIZATION;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANT SER-434;

Species-specific induction of cytochrome P-450 4A RNAs: PCR cloning of partial guinea-pig, human and mouse CYP4A cDNAs.
Bell D.R.; Plant N.J.; Rider C.G.; Na L.; Brown S.; Ateitalla I.; Acharya S.K.; Davies M.H.; Elias E.E.; Jenkins N.A.; Gilbert D.J.; Copeland N.G.; Elcombe C.R.;
Biochem. J. 294:173-180(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 317-457; VARIANTS GLY-353 AND SER-434;

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: FUNCTION; CATALYTIC ACTIVITY; MUTAGENESIS OF GLY-130; VARIANT SER-434; BIOPHYSICOCHEMICAL PROPERTIES; PATHWAY;

Highly polymorphic human CYP4A11 gene.
Cho B.H.; Park B.L.; Kim L.H.; Chung H.S.; Shin H.D.;
J. Hum. Genet. 50:259-263(2005)
Cited for: VARIANTS GLY-353 AND SER-434;

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.