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. |