Mutation data of the PDE6A 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*2 Onset Reference
M 1032 1 A S344R 1 AGCg-AGA --> Ser-Arg at codon 344 Retinitis pigmentosa severe retinal dysfunction AR early Huang (1995) Nature Genet. 11, 468.
N 1683 1 A W561X 1 TGGc-TGA --> Trp-Term at codon 561 Retinitis pigmentosa severe retinal dysfunction AR early Huang (1995) Nature Genet. 11, 468.
N 1749 1 G Y583X 1 TACt-TAG --> Tyr-Term at codon 583 Retinitis pigmentosa severe retinal dysfunction AR early Huang (1995) Nature Genet. 11, 468.

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: AR, Autosomal Recessive.







Last updated 31 March 1999