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. Author manuscript; available in PMC: 2010 Jun 8.
Published in final edited form as: Clin Genet. 2010 Apr;77(4):395–398. doi: 10.1111/j.1399-0004.2009.01338.x

Figure 1.

Figure 1

Family L1754 carrying the G417R mutation in TMC1 segregates ADNSHL at the DFNA36 locus. (A) Pedigree and haplotype segregation of STRP markers D9S1817, D9S273, D9S175, D9S167 and D9S283 (top to bottom). Note the recombination event in the paternal chromosome inherited by IV-16. (B) Sequencing result showing the heterozygous p.G417R mutation in affected individuals. (C) Amino acids p.G417 and p.M418 (bolded) of TMC1 are conserved across species: 1 Homo sapiens, 2 Pan troglodytes, 3 Canis familiaris, 4 Bos taurus, 5 Equus caballus, 6 Mus musculus, 7 Monodelphis domestica, 8 Gallus gallus, 9 Taeniopygia guttata, 10 Danio rerio and 11 human TMC2). The predicted transmembrane domain is boxed.