Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case # |
Consequence |
Symptom |
Hereditary pattern |
Ethnic origin |
Onset |
Origin |
Reference |
N |
463 |
1 |
T |
Q155X |
1 |
Gln->Stop at codon 155 |
cerulean cataract with peripheral bluish and white opacifications in concentric layers |
AD |
American |
early |
germinal |
Litt (1997) Hum. Mol. Genet. 6, 665. |
N |
463 |
1 |
T |
Q155X |
1 |
Gln->Stop at codon 155 |
Coppock-like cataract with a purvelulent opacification of the embryonal nucleus |
AD |
Swiss |
early |
germinal |
Gill (2000) Invest. Ophthalmol. Vis. Sci. 41, 159. |