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UniProtKB/Swiss-Prot P31513: Variant p.Asn61Ser

Dimethylaniline monooxygenase [N-oxide-forming] 3
Gene: FMO3
Variant information

Variant position:  61
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Asparagine (N) to Serine (S) at position 61 (N61S, p.Asn61Ser).
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 medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Trimethylaminuria (TMAU) [MIM:602079]: Inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino-trimethylamine (TMA) derived from foodstuffs. Affected individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine. {ECO:0000269|PubMed:10338091, ECO:0000269|PubMed:10479479, ECO:0000269|PubMed:11191884, ECO:0000269|PubMed:12893987, ECO:0000269|PubMed:17531949, ECO:0000269|PubMed:9536088}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In TMAU; more than 90% reduction in catalytic efficiency toward trimethylamine, benzydamine and methyl p-tolyl sulfide.
Any additional useful information about the variant.

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



Sequence information

Variant position:  61
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  532
The length of the canonical sequence.

Location on the sequence:   WKFSDHAEEGRASIYKSVFS  N SSKEMMCFPDFPFPDDFPNF
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 2 – 532 Dimethylaniline monooxygenase [N-oxide-forming] 3
Nucleotide binding 60 – 61 NADP
Nucleotide binding 61 – 62 FAD


Literature citations

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;

Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome.
Dolphin C.T.; Janmohamed A.; Smith R.L.; Shephard E.A.; Phillips I.R.;
Pharmacogenetics 10:799-807(2000)
Cited for: VARIANTS TMAU SER-61; LEU-153; ILE-434 AND TRP-492; CHARACTERIZATION OF VARIANTS TMAU SER-61; LEU-153; ILE-434 AND TRP-492;

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.