All variants in the FMO3 gene

Information The variants shown are described using the NM_001002294.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 5 c.560T>C - r.(?) p.(Val187Ala) - pathogenic (recessive) g.171077295T>C g.171108154T>C - - FMO3_000070 Rare variant. One proband in 100 individuals. Compound het with p.Glu305*. No effect when present alone, but severe reduction of activity when present in cis with p.Glu158Lys. PubMed: Motika et al. 2009 - - Germline yes - - 0 - Ornicha Prapapan
+/+ 5 c.560T>C - r.(?) p.Val187Ala - NA g.171077295T>C g.171108154T>C - - FMO3_000070 Expected to affect metabolism of drug substrates of FMO3, when in cis with p.Glu158Lys PubMed: Motika 2009 - - In vitro (cloned) - - - 0 - Ornicha Prapapan
-?/-? 5 c.560T>C - r.(?) p.Val187Ala - NA g.171077295T>C g.171108154T>C - - FMO3_000070 no effect alone, when present in cis with p.Glu158Lys kcat/Km for N-oxygenation of TMA is reduced 98% and for S-oxygenation of methimazole is reduced 75% PubMed: Motika 2009 - rs28363549 In vitro (cloned) - - - 0 - Ornicha Prapapan
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