COCH mutations in DFNA9 families
| Origin of families | Exon with mutation | Nucleotide change* | Amino acid change† | Reference |
|---|---|---|---|---|
| *Numbering of nucleotides is according to the human COCH cDNA sequence (GenBank Accession No AF006740), which starts in the 5′ untranslated region, 56 bp upstream of the start ATG. | ||||
| †Numbering of amino acids begins at the start methionine. | ||||
| Belgium and The Netherlands | 4 | C207T | P51S | 5,6 |
| USA | 4 | T253G | V66G | 4 |
| USA | 5 | G319A | G88E | 4 |
| Australia | 5 | T382A | I109N | 7 |
| USA | 5 | T405C | W117R | 4 |