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