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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99518: Variant p.Phe81Ser

Flavin-containing monooxygenase 2
Gene: FMO2
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Variant information Variant position: help 81
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Serine (S) at position 81 (F81S, p.Phe81Ser).
Physico-chemical properties: help Change from large size and aromatic (F) to small size and polar (S)
BLOSUM score: help -2
Polymorphism: help 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).
Other resources: help


Sequence information Variant position: help 81
Protein sequence length: help 535
Location on the sequence: help NTSKEMSCFSDFPMPEDFPN F LHNSKLLEYFRIFAKKFDLL
Sequence annotation in neighborhood: help
TypePositionsDescription
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;
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.