Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary pattern*3 |
Reference |
N |
226 |
1 |
T |
E76X |
1 |
gGAG-TAG --> Glu-Term at codon 76 |
Retinitis pigmentosa |
1*2 |
AR |
Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995). |
N |
415 |
1 |
T |
K139X |
1 |
gAAA-TAA --> Lys-Term at codon 139 |
Retinitis pigmentosa |
1 |
AR |
Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995). |
M |
947 |
1 |
T |
S316F |
2 |
TCT-TTT --> Ser-Phe at codon 316 |
Retinitis pigmentosa |
1 |
AR |
Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995). |
FD |
1958, 1959 or 1960 |
1 |
|
1960delA |
3 |
1-bp del of A at nucleotide 1958, 1959 or 1960 --> frameshift at codon 654 |
Retinitis pigmentosa |
1 |
AR |
Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995). |
P |
340 |
1 |
A |
340G/A |
1 |
GAT-AAT --> Asp-Asn at codon 114 --> Polymorphism |
Retinitis pigmentosa |
1 |
- |
Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995). |