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 |