Table 2

CNGA3 disease causing mutations in families with achromatopsia

FamilyMutation
TypeNucleic acid changeAmino acid substitution
Ht, heterozygous; Hm, homozygous.
Mutations in bold represent novel changes.
7Hm 67C→T Arg23Stop
8Hm 586C→T Gln196Stop
10Hm 661C→T Arg221Stop
3Ht667C→TArg223Trp
12Ht1306C→TArg436Trp
9Ht1443insC, 1706G→AIle482fs, Arg569His
15Hm1641C→APhe547Leu
18Hm1641C→APhe547Leu
6Hm 1642G→A Gly548Arg