Table 1 of
Jaijo, Mol Vis 2012; 18:1719-1726. Table 1 of
Jaijo, Mol Vis 2012; 18:1719-1726.
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 |