Table 3 of
Wawrocka, Mol Vis 2014; 20:1732-1739. Table 3 of
Wawrocka, Mol Vis 2014; 20:1732-1739.
Table 3. Identified CNGB3 gene mutations.
| Patient | Mutation | Type of mutation | Effect of mutation | Allelic state | Mutation origin | References |
|---|---|---|---|---|---|---|
| p1 | c.1578+1G>A (allele 1) | splice site | splicing defect | heterozygous | paternal | Kohl et al., Hum Mol Genet; 2000 |
| c.1579–1G>A (allele 2) | splice site | splicing defect | heterozygous | maternal | this study | |
| p2 | c.819_826del (allele 1) | frameshift | p.Arg274Valfs* | heterozygous | maternal | Sundin et al., Nature Genet; 2000 |
| c.1194T>G (allele 2) | nonsense | p.Tyr398* | heterozygous | paternal | this study | |
| p3 | c.393_394delGCinsTCCTGGTGA (allele 1) | frameshift | p.Gln131Hisfs*50 | heterozygous | maternal | this study |
| c.494–2A>T (allele 2) | splice site | splicing defect | heterozygous | paternal | this study | |
| p4 | c.1148delC (allele 1) | frameshift | p.Thr383Ilefs*13 | heterozygous | no data | Sundin et al., Nature Genet; 2000 |
| c.1366delC (allele 2) | frameshift | p.Arg456Alafs*11 | heterozygous | no data | this study |