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PMID:7889574

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Citation

Wang, Q, Shen, J, Splawski, I, Atkinson, D, Li, Z, Robinson, JL, Moss, AJ, Towbin, JA and Keating, MT (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80:805-11

Abstract

Long QT syndrome (LQT) is an inherited disorder that causes sudden death from cardiac arrhythmias, specifically torsade de pointes and ventricular fibrillation. We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24. Here we report genetic linkage between LQT3 and polymorphisms within SCN5A, the cardiac sodium channel gene. Single strand conformation polymorphism and DNA sequence analyses reveal identical intragenic deletions of SCN5A in affected members of two unrelated LQT families. The deleted sequences reside in a region that is important for channel inactivation. These data suggest that mutations in SCN5A cause chromosome 3-linked LQT and indicate a likely cellular mechanism for this disorder.

Links

PubMed

Keywords

Amino Acid Sequence; Base Sequence; Cloning, Molecular; DNA Mutational Analysis; Female; Genetic Linkage; Humans; Long QT Syndrome/genetics; Male; Molecular Sequence Data; Pedigree; Polymorphism, Single-Stranded Conformational; Sequence Deletion/genetics; Sodium Channels/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:SCN5A

involved_in

GO:0060373: regulation of ventricular cardiac muscle cell membrane depolarization

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:SCN5A

involved_in

GO:0060307: regulation of ventricular cardiac muscle cell membrane repolarization

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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