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