Mutation data of the CNCG1/CNGA1 gene in retinitis pigmentosa

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary pattern*3 Reference
N 226 1 T E76X 1 gGAG-TAG --> Glu-Term at codon 76 Retinitis pigmentosa 1*2 AR Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995).
N 415 1 T K139X 1 gAAA-TAA --> Lys-Term at codon 139 Retinitis pigmentosa 1 AR Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995).
M 947 1 T S316F 2 TCT-TTT --> Ser-Phe at codon 316 Retinitis pigmentosa 1 AR Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995).
FD 1958, 1959 or 1960 1   1960delA 3 1-bp del of A at nucleotide 1958, 1959 or 1960 --> frameshift at codon 654 Retinitis pigmentosa 1 AR Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995).
P 340 1 A 340G/A 1 GAT-AAT --> Asp-Asn at codon 114 --> Polymorphism Retinitis pigmentosa 1 - Dryja,T.P. et al. Proc Natl Acad Sci USA 92,10177-10181(1995).

*1 Abbreviations are as follows: M, Missense; N, Nonsense; FD, Frameshift Deletion; P, Polymorphism.
*2 night blindness by age 20 followed by progressive loss of peripheral visual field and later central visual field that leads to blindness usually in middle age
*3 Abbreviations are as follows: AR, Autosomal Recessive.







Last updated 12 Dec 1998