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Article

Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation.

Journal of human genetics - 1 May 2009

Yang Yiqing, Li Jun, Lin Xiaoping, Yang Yanzong, Hong Kui, Wang Lei, Liu Jinqiu, Li Li, Yan Dinghong, Liang Dandan, Xiao Junjie, Jin Hongmei, Wu Jie, Zhang Yangyang, Chen Yi-Han

Abstract excerpt

Accumulating evidence reveals that genetic variants play pivotal roles in familial atrial fibrillation (AF). However, the molecular defects in most patients with AF remain to be identified. Here, we report on three novel KCNA5 mutations that were identified in 4 of 120 unrelated AF families. Among them, T527M was found in two AF families, and A576V and E610K in two other AF families, respectively. The mutations...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19343045
DOI: 10.1038/jhg.2009.26

Genes

KCNA5

Variants

Provenance

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