Mutation data of the PDE6B gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Disease Hereditary pattern*2 Symptom Onset Reference
M 772 1 A H258N 1 Congenital stationary night blindness AD night blindness congenital Gal (1994) Nature Genet. 7, 64.
N 892 1 T Q298X 4 Retinitis pigmentosa AR reduced rod and cone response early McLaughlin (1993) Nature Genet. 4, 130.
M 1580 1 C L527P 2 Retinitis pigmentosa AR reduced rod response ND McLaughlin (1995) Proc. Natl. Acad. Sci. USA 92, 3249.
N 1591 1 T R531X 2 Retinitis pigmentosa AR reduced rod and cone response early McLaughlin (1993) Nature Genet. 4, 130.
M 1669 1 T H557Y 2 Retinitis pigmentosa AR reduced rod response ND McLaughlin (1995) Proc. Natl. Acad. Sci. USA 92, 3249.
M 1727 1 A G576D 2 Retinitis pigmentosa AR severe retinal dysfunction early Danciger (1995) Genomics 30, 1.
M 2096 1 G L699R 2 Retinitis pigmentosa AR severe retinal dysfunction early Valverde (1996) Hum. Genet. 97, 35.
N 2116 1 T K706X 2 Retinitis pigmentosa AR reduced rod response ND McLaughlin (1995) Proc. Natl. Acad. Sci. USA 92, 3249.
M 1604 1 A I535N 2 Retinitis pigmentosa AR visual field disturbance, and poor night vision since childhood late Saga, M. (1998) Curr. Eye Res. 17, 332.

*1 Abbreviations are as follows: M, Missense; N, Nonsense.
*2 Abbreviations are as follows: AD, Autosomal Dominant; AR, Autosomal Recessive; ND, Not Described.








Last updated 9 Dec 1998