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Fig. 3 | BMC Medical Genetics

Fig. 3

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

Fig. 3

Mutation analysis of the SR-357 family with the p.A374S variation. (a) Pedigree of Korean family SR-357. The filled squares and the filled circle represent affected males and a female, respectively. Unfilled symbols denote unaffected individuals. The symbol with a diagonal line indicates a deceased member. The individuals evaluated in this study are denoted by asterisks. The proband of the SR-357 family is indicated with the arrow. (b) Partial result of the DNA sequencing analysis of proband (III-2) and her parents (II-3, II-4). The arrows indicate the position of c.1120G > T. (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.A374S

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BMC Medical Genetics

ISSN: 1471-2350

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