Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Disease |
Symptom |
Hereditary pattern*2 |
Onset |
Ethnic Origin |
Reference |
LD |
1069 |
126 |
|
deletion of exon 5 |
4 |
6.2 kb deletion encompassing exon 5 |
Oguchi disease |
stationary night blindness and Mizuo phenomenon |
AR |
early |
European |
Yamamoto,S. et al. Nature Genet.15,175-178(1997) |
M |
1139 |
1 |
A |
V380D |
1 |
GTC-GAC --> Val-Asp at codon 380 |
Oguchi disease |
stationary night blindness and Mizuo phenomenon |
AR |
early |
European |
Yamamoto,S. et al. Nature Genet.15,175-178(1997) |
FD |
1607 |
4 |
|
1607delCGGA |
1 |
4-bp del of CGGA at nucleotides 1607-1610 --> frameshift at codon 536 |
Oguchi disease |
stationary night blindness and Mizuo phenomenon |
AR |
early |
European |
Yamamoto,S. et al. Nature Genet.15,175-178(1997) |