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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans

Fig. 2

Mutation analysis of the SR-167 family with the p.I78V variation. (a) Pedigree of Korean family SR-167. Squares and circles denote males and females, respectively. Filled symbols represent affected individuals, and unfilled symbols represent unaffected individuals. The individuals evaluated in this study are indicated with asterisks. The proband of the SR-167 family is marked with an arrow. (b) Partial result of the DNA sequencing analysis of proband (III-1) , her father (II-2) and a normal control. The arrows indicate the position of c.232A > G. (c) Alignment of the VGLUT3 amino acid sequence in different vertebrate species: Homo sapiens, Aotus nancymaae, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, and Danio rerio. The arrow shows the position of the non-synonymous variation p.I78V

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BMC Medical Genetics

ISSN: 1471-2350

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