Mutation data of the CRYBB2 gene in cataract

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.

*1 Abbreviations are as follows: N, Nonsense.
*2 Abbreviations are as follows: AD, Autosomal Dominant.








Last updated 30 March 2000