KCNQ1
(in Familial Atrial Fibrillation-FAF)

go to: FAF synopsis - KCNQ1 mutations in LQT1 - Locus Table for: LQT1 - FAF

OMIM: 607554 607542- Gene: 3784
AA numbering is based on Gene Bank cDNA: AF000571
Nucleotide numbering starts from ATG

Nucleotide Change Aminoacid Change Mutation Type Region Phenotype Reference
A418G S140G Missense S1 Atrial Fibrillation Chen et al 2003
G421A V141M Missense S1 SQTS+ atrial fibrillation Hong 2005
A440G Q147R ep_data Missense S1-S2 RWS+ Atrial fibrillation Lundby et al. 2007

 

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