Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

<div>(a) Sanger sequencing chromatograms showing the c.T275A p.V92D mutation of the family. (b) Protein sequence alignment showing conservation of the V92 residue in cochlin across human (<i>H. sapiens</i>), chimpanzee (<i>P. troglodytes</i>), macaca (<i>M. mulatta</i>), mouse (<i>M. musculus</i>), chicken (<i>G. gallus</i>), and zebrafish (<i>D. rerio</i>). (c) Pathogenicity prediction using computational programs. D in the parentheses stands for deleterious.</div>

Neural Plasticity

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Figure 2

Figure 2: Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH 