Table 1. Probable pathogenic point mutations identified in Spanish Usher I patients in the PCDH15 gene.
| Nucleotide change | Amino acid change | Exon/ intron | Number patients/ alleles | SNP | Domain | References |
|---|---|---|---|---|---|---|
|
Missense | ||||||
| c.401G>A |
p.R134Q |
5 |
1/1 |
— |
EC1 |
[22] |
|
Frameshift | ||||||
|
c.1304_1305insC |
p.T436YfsX12 |
11 |
1/1 |
— |
EC4 |
This study |
|
Splice-site | ||||||
|
c.2868+5G>A |
— |
21 |
1/1 |
— |
EC9 |
This study |
|
c.3717+2dupT |
— |
27 |
1/2 |
— |
EC11 |
This study |
|
Nonsense | ||||||
| c.733C>T |
p.R245X |
8 |
1/1 |
rs111033260 |
EC2 |
[24] |
|
c.1737C>G |
p.Y579X |
14 |
1/1 |
— |
EC5 |
This study |
| c.2782A>T | p.K928X | 21 | 1/2 | — | — | This study |
In bold: Variants not previously reported.