UniProtKB/Swiss-Prot Q99518: Variant p.Phe81Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 81 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 Phenylalanine (F) to Serine (S) at position 81 (F81S, p.Phe81Ser). 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: The sequence shown is that of the allele FMO2*1. FMO2*2A is the major allele in the human population, however it encodes a truncated and catalytically inactive protein (PubMed:9804831). FMO2*2A occurs in essentially 100% of Caucasians and Asians (PubMed:9804831). FMO2*1 is present at a frequency of approximately 4% to 13% in the sample of population of African descent (PubMed:11042094, PubMed:18794725, PubMed:9804831). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs2020860 [ dbSNP | Ensembl ]

Sequence information

Variant position: 81 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 535 The length of the canonical sequence.
Location on the sequence: NTSKEMSCFSDFPMPEDFPN F LHNSKLLEYFRIFAKKFDLL 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	2 – 535	Flavin-containing monooxygenase 2

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE FMO2*2A); VARIANTS GLY-36; TYR-69; SER-81; SER-182; LEU-195; GLN-238; GLY-314; THR-391 AND LYS-413;