Mutation Type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Hereditary pattern*2 |
Symptom |
Onset |
Reference |
M |
178 |
1 |
A |
P60T |
1 |
CCT-ACT at ntd 178 ->Pro-Thr at codon 60 |
Retinitis pigmentosa |
AD |
no rod response |
late |
Bascom (1995) Hum. Molec. Genet. 4, 1895. |
M |
224 |
1 |
A |
G75D |
1 |
GGC-GAC at ntd 224 -> Gly-Asp at codon 75 |
Retinitis pigmentosa |
simplex |
no rod response |
late |
Bascom (1995) Hum. Molec. Genet. 4, 1895. |
M |
323 |
1 |
T |
T108M |
1 |
ACG-ATG at ntd 323 -> Thr-Met at codon 108 |
Retinitis pigmentosa |
AD |
no rod response |
late |
Bascom (1995) Hum. Molec. Genet. 4, 1895. |
M |
725 |
1 |
A |
R242Q |
1 |
CGA-CAA at ntd 725 -> Arg-Gln at codon 242 |
Retinitis pigmentosa |
simplex |
no rod response |
late |
Bascom (1995) Hum. Molec. Genet. 4, 1895. |