Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary pattern*2 |
Onset |
Reference |
M |
1032 |
1 |
A |
S344R |
1 |
AGCg-AGA --> Ser-Arg at codon 344 |
Retinitis pigmentosa |
severe retinal dysfunction |
AR |
early |
Huang (1995) Nature Genet. 11, 468. |
N |
1683 |
1 |
A |
W561X |
1 |
TGGc-TGA --> Trp-Term at codon 561 |
Retinitis pigmentosa |
severe retinal dysfunction |
AR |
early |
Huang (1995) Nature Genet. 11, 468. |
N |
1749 |
1 |
G |
Y583X |
1 |
TACt-TAG --> Tyr-Term at codon 583 |
Retinitis pigmentosa |
severe retinal dysfunction |
AR |
early |
Huang (1995) Nature Genet. 11, 468. |