SLC26A4 mutations and chromosome 7q31 haplotypes in south Asian families
| Linked STR haplotype | ||||||
|---|---|---|---|---|---|---|
| Mutation | Exon | Family | Country | D7S496 | D7S2459 | D7S2456 |
| STR genotypes are given as allele sizes (bp). Underlines indicate the haplotype significantly associated with S90L (p=0.0001). | ||||||
| *4017 bp genomic deletion of IVS2-713 to IVS3+3164, with 3 bp insertion of CAT. | ||||||
| †Predicted to result in a frameshift and premature translation termination. | ||||||
| S28R (84C>A) | 2 | DKMy10 | India | |||
| S90L (269C>T) | 3 | PKDF026 | Pakistan | 131 | 145 | 240 |
| PKDF074 | Pakistan | 133 | 145 | 240 | ||
| PFDF106 | Pakistan | 133 | 145 | 240 | ||
| PKSRE | Pakistan | 131 | 145 | 240 | ||
| PKSN23 | Pakistan | 131 | 145 | 240 | ||
| S57X (170C>A) | 3 | DKH-5 | India | |||
| IVS2_IVS3del4kb* | 3 | DKH-5 | India | |||
| V239D (716T>A) | 6 | I-56 | India | |||
| PKDF032 | Pakistan | |||||
| DKH-10 | India | |||||
| IVS8+4A>G | 8 (splice donor) | PKSR21 | Pakistan | |||
| R409P (1226G>C) | 10 | DKMy-8 | India | |||
| I455F (1363A>T) | 12 | PKSR5 | Pakistan | |||
| PKSR6 | Pakistan | |||||
| N457K (1371C>A) | 12 | DKH-9 | India | |||
| 1863delT†| 17 | PKSRD | Pakistan | |||