Mutation | Nucleotide | Exon | Controls* | Conservation of affected residue | |
---|---|---|---|---|---|
Orthologs† | Paralogs‡ | ||||
*Number of times the mutation was identified in a Caucasian diversity panel. Denominator denotes number of chromosomes sequenced; †conservation of affected residue among human, mouse, and rat SLC26A4 orthologs; ‡conservation of affected residue among human paralogs SLC26A1 to SLC26A9. | |||||
IVS10-1 G>C | IVS10-1 G>C | IVS 10 | 0/168 | – | – |
FS464/X487 | 1392delG | 12 | 0/176 | – | – |
Q514R | 1541A>G | 13 | 0/192 | Yes | 1–6, 9 |
Y530S | 1589A>C | 14 | 0/192 | Yes | 1, 3–6, 8, 9 |
V609G | 1826T>G | 17 | 0/144 | No | No |
R776C | 2326C>T | 21 | 0/186 | Yes | No |