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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31513: Variant p.Val257Met

Flavin-containing monooxygenase 3
Gene: FMO3
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Variant information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Methionine (M) at position 257 (V257M, p.Val257Met). 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: help 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: help 1 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: help 65% increase in catalytic efficiency toward trimethylamine and 60% reduction toward benzydamine and methyl p-tolyl sulfide. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 257 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 532 The length of the canonical sequence.
Location on the sequence: help TRFGTFLKNNLPTAISDWLY V KQMNARFKHENYGLMPLNGV 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: help 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 2 – 532 Flavin-containing monooxygenase 3



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-132; LYS-158; CYS-205; MET-257; ALA-277; GLY-308; PRO-360 AND GLN-362; 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]; VARIANT MET-257; Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
Treacy E.P.; Akerman B.R.; Chow L.M.L.; Youil R.; Bibeau C.; Lin J.; Bruce A.G.; Knight M.; Danks D.M.; Cashman J.R.; Forrest S.M.;
Hum. Mol. Genet. 7:839-845(1998)
Cited for: CATALYTIC ACTIVITY; VARIANTS TMAU ILE-66 AND LEU-153; VARIANTS LYS-158; MET-257 AND GLY-308; Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria.
Yeung C.K.; Adman E.T.; Rettie A.E.;
Arch. Biochem. Biophys. 464:251-259(2007)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS TMAU SER-61; ILE-66; LEU-153 AND TRP-492; CHARACTERIZATION OF VARIANTS LYS-158; MET-257 AND GLY-308; Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans.
Furnes B.; Feng J.; Sommer S.S.; Schlenk D.;
Drug Metab. Dispos. 31:187-193(2003)
Cited for: VARIANTS HIS-132; LYS-158; MET-257; PRO-360; GLN-362 AND ARG-503; Identification and functional analysis of common human flavin-containing monooxygenase 3 genetic variants.
Koukouritaki S.B.; Poch M.T.; Henderson M.C.; Siddens L.K.; Krueger S.K.; VanDyke J.E.; Williams D.E.; Pajewski N.M.; Wang T.; Hines R.N.;
J. Pharmacol. Exp. Ther. 320:266-273(2007)
Cited for: VARIANTS ASP-24; LYS-61; LYS-158; MET-257; GLY-308 AND ASN-416; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS ASP-24; LYS-61 AND ASN-416;
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.