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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

Fig. 1

Exon–intron structure and alternative transcripts of the human KCNQ1 gene. The two wild-type isoform transcripts, the kidney and pancreas isoforms, are composed of exons 1a and 1–15 (kidney isoform) encoding 676 amino acids or exons 1b and 1–15 (pancreas isoform) encoding 549 amino acids [1, 4]. The arrow and star indicate the nonsense variant (NM_000218.2:c.115G > T, p.Glu39X) in exon 1a of the KCNQ1 gene. *, both isoforms can form a functional cardiac potassium channel [1, 2]

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BMC Medical Genetics

ISSN: 1471-2350

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