Mutation data of the GJA3/CX46 gene in congenital cataract

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Symptom Onset Hereditary Pattern*3 Ethnic Origin Reference
M 188 1 G N63S 1 AAC-AGC at ntd 188 -> Asn-Ser at codon 63 ND ND AD British Mackay, D. et al. Am. J. Hum. Genet. 64, 1357 (1999)
FI 1137 0 C 1137insC 1 1-bp ins at ntd 1137 -> frameshift at codon 380 1*2 at birth or developed during infancy AD British Mackay, D. et al. Am. J. Hum. Genet. 64, 1357 (1999)

*1 Abbreviations are as follows: M, Missense; FI, Frameshift Insertion.
*2 The opacities appeared coarse and granular toward the central zone of the lens, whereas fine dustlike opacities predominated in the peripheral zone of the lens.
*3 Abbreviations are as follows: AD, Autosomal Dominant; ND, Not Described.








Last updated 30 Sept 1999