Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants by Tan Bi-Hua, Valdivia Carmen R, Rok Benjamin A, Ye Bin, Ruwaldt Karen M, Tester David J, Ackerman Michael J, Makielski Jonathan C in Heart rhythm : the official journal of the Heart Rhythm Society (2005).

[PMID: 15992732] PubMed


Eight common (>0.5%) polymorphisms of SCN5A have been described in the US population. Every human also continuously generates two wild-type (WT) splice variants, one with a glutamine residue at position 1077 (Q1077) and one lacking this glutamine (Q1077del). One polymorphism (H558R) has been studied in both splice variants, five polymorphisms (R34C, R481W, S524Y, P1090L,V1951L) have not been previously studied, and two polymorphisms (S1103Y and R1193Q) have been studied in only one of the two splice variants.

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