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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions

Fig. 1

(a, b) Pedigrees of the two families, segregation of the respective TMC1 variants, and the audiological phenotypes of the probands. Bilateral moderate sensorineural hearing loss was evident, exhibiting a down-sloping configuration, in the audiograms of the two probands. Progressivity of hearing loss was noted in serial audiograms of SH676-1332 as hearing declines with age. (c) Physical map and conserved residues of TMC1, which consists of 10 transmembrane domains. The domain structure of TMC1 was constructed based on the Universal Protein Resource (UniProt) database. The two variants c.1256T > C:p.Phe419Ser in SH386 and c.1444T > C:p.Trp482Arg in SH676 are located in transmembrane domain 4 and the extracellular linker region between transmembrane domains 5 and 6, respectively. Conservation of the affected residues (Phe419 and Trp482) among species was documented for the two TMC1 variants identified in this study

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BMC Medical Genomics

ISSN: 1755-8794

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