Literature DB >> 19343129

Mutation-prone points in KCNQ.

Viroj Wiwanitkit1.   

Abstract

BACKGROUND: KCNQ channels play important roles in controlling membrane excitability. A reduction in KCNQ channel activity due to genetic mutation is responsible for various human diseases, including arrhythmia.
METHODS: A combined bioinformatics analysis was performed to study the positions that are at risk for mutation within the amino acid sequence of KCNQ. A new bioinformatics tool, namely GlobPlot, was used.
RESULTS: According to the present study, the positions that are resistant to mutation are predicted.
CONCLUSION: Several mutation-prone positions within the KCNQ sequence are reported.

Entities:  

Keywords:  Arrythmia; KCNQ; Mutation

Year:  2008        PMID: 19343129      PMCID: PMC2586411     

Source DB:  PubMed          Journal:  Exp Clin Cardiol        ISSN: 1205-6626


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8.  The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.

Authors:  Shehrazade Dahimène; Sébastien Alcoléa; Patrice Naud; Philippe Jourdon; Denis Escande; Robert Brasseur; Annick Thomas; Isabelle Baró; Jean Mérot
Journal:  Circ Res       Date:  2006-10-19       Impact factor: 17.367

9.  KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging.

Authors:  Karen Ocorr; Nick L Reeves; Robert J Wessells; Martin Fink; H-S Vincent Chen; Takeshi Akasaka; Soichiro Yasuda; Joseph M Metzger; Wayne Giles; James W Posakony; Rolf Bodmer
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10.  Where is the weak linkage in the globin chain?

Authors:  Viroj Wiwanitkit
Journal:  Int J Nanomedicine       Date:  2006
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