Conservation analysis of the COL2A1 p.Gly207 amino acid residue.

<p>Conservation analysis of the COL2A1 p.Gly207 amino acid residue.</p

Heterozygous c.620G>A (p.Gly207Glu) mutation in the <i>COL2A1</i> gene.

<p>Heterozygous c.620G>A (p.Gly207Glu) mutation in the <i>COL2A1</i> gene.</p

The schematic structure and the mutations of the human myosin XVa.

<p>The myosin XVa consists of 3530 amino acids, including an N-terminal extension domain and Motor domain, two light chain binding IQ motifs, two myosin-tail homology 4 (MyTH4) domains and band 4.1/ezrin/radixin/moesin (FERM) domains, a Src-homology-3 (SH3) domain and a C-terminal class I PDZ-ligand domain. The novel <i>MYO15A</i> mutation in this study is showed with red box at the bottom of the figure, and previously reported mutations are displayed at the top of the figure. <i>MYO15A</i>, the myosin XVa gene.</p

Pedigree and sequence analysis of an ARNSHL family.

<p>(A) Pedigree of the ARNSHL family. N, normal; M, the <i>MYO15A</i> c.9316dupC variant. (B) The homozygous <i>MYO15A</i> c.9316dupC variant of the affected individual (IV:2). (C) The heterozygous <i>MYO15A</i> c.9316dupC variant of the unaffected individual (III:1). (D) The <i>MYO15A</i> gene sequence of a normal control. ARNSHL, autosomal recessive nonsyndromic hearing loss; <i>MYO15A</i>, the myosin XVa gene.</p