Fig. 1: Autosomal dominant non-syndromic hearing loss (DFNA2)-associated KCNQ4 variants. | Experimental & Molecular Medicine

Fig. 1: Autosomal dominant non-syndromic hearing loss (DFNA2)-associated KCNQ4 variants.

From: Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment

Fig. 1

a Exon structure of human KCNQ4 cDNA and domain structure of KCNQ4 are shown. Only variants identified in individuals with DFNA2 are shown. KCNQ4 contains 14 exons; the positions of the start (ATG) and stop (TGA) codons are indicated. Loss-of-function mutations, such as nonsense and frameshift mutations, are indicated. b Missense and in-frame deletion mutations are indicated. Note that mutations are clustered in exons 5 and 6, which encode part of the transmembrane (TM) 5, pore region, and TM6. The pathogenic variants identified by our group are shown in blue

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