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Figure 1 | BMC Medical Genetics

Figure 1

From: Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2mutations

Figure 1

Identification and co-segregation of KCNH2 mutation A490T and SNP K897T in family QW2648 and with LQTS. (A). Pedigree structure of family QW2648. All the affected individuals carry double variants, K897T and A490T of KCNH2 on the same chromosome (in cis orientation). (B, C). DNA sequence analysis for the proband in family QW2648. A heterozygous G→A transition at nucleotide 1468 of KCNH2, which results in a substitution of alanine by threonine (A490T) (B). DNA sequence for KCNH2 SNP K897T is shown in (C). (D) Comparison of mean QTc for carriers with KCNH2 mutation A490T, A490P, and both A490T and SNP K897T.

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BMC Medical Genetics

ISSN: 1471-2350

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