Table 1
Polymorphisms found in the
RP1
gene in families and random unrelated Pakistani controls
Exon
Base change
Amino acid change
No. of patients/ families
No. of controls
4(6)
2615G→A
R872H
4
4
4(6)
2644A→G
I882V
2
2
4(7)
2953A→T
N985Y
6
6
4(9)
3615A→T
P1205P
9
–
4(12)
5008G→A
A1670T
2
4
4(12)
5071T→C
S1691P
3
4
4(13)
5175A→G
Q1725Q
2
–