Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Hereditary pattern*2 |
Symptom |
Onset |
Reference |
N |
154 |
1 |
T |
G52X |
1 |
GGA-TGA at ntd 154 -> Gly-Term at codon 52 |
Retinitis pigmentosa |
XR |
severe retinitis pigmentosa |
early |
Meindl et al.Nature Genet.13,35(1996). |
M |
294 |
1 |
A |
H98Q |
1 |
CAC-CAA at ntd 294 -> His-Gln at codon 98 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
early |
Meindl et al.Nature Genet.13,35(1996). |
M |
389 |
1 |
G |
F130C |
1 |
TTT-TGT at ntd 389 -> Phe-Cys at codon 130 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
ND |
Roepman et al.Hum. Molec. Genet.5,1035(1996). |
N |
581 |
1 |
A |
W194X |
1 |
TGG-TAG at ntd 581 -> Trp-Term at codon 194 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
early |
Meindl et al.Nature Genet.13,35(1996). |
M |
644 |
1 |
T |
G215V |
1 |
GGA-GTA at ntd 644 -> Gly-Val at codon 215 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
early |
Meindl et al.Nature Genet.13,35(1996). |
M |
703 |
1 |
T |
P235S |
1 |
CCC-TCC at ntd 703 -> Pro-Ser at codon 235 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
ND |
Roepman et al.Hum. Molec. Genet.5,1035(1996). |
M |
748 |
1 |
C |
C250R |
1 |
TGT-CGT at ntd 748 -> Cys-Arg at codon 250 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
early |
Meindl et al.Nature Genet. 13, 35(1996). |
M |
823 |
1 |
A |
G275S |
1 |
GGT-AGT at ntd 823 -> Gly-Ser at codon 275 |
Retinitis pigmentosa |
XR |
severe retinal dysfunction |
ND |
Roepman et al.Hum. Molec. Genet.5,1035(1996). |