Table 4 of Zhang, Mol Vis 2010; 16:1353-1360.

Table 4. Summary of RP1 missense mutations identified in patients with retinitis pigmentosa.

Mutation cDNA Study population Diagnosis Reference
p.T373I* c.1118C>T Pakistan ARRP [18]
p.K663N c.1989G.>T U.S.A. ADRP [16]
p.A669T c.2005G>A Pakistan ARRP [18]
p.D984G c.2951A>G Chinese ADRP [21]
p.N985Y c.2954A>T Chinese ADRP [39]
p.K1370E c.4108A>G Chinese SRP Present Study
p.R1652L c.4955G>T Chinese SRP Present Study
p.L1808P c.5423T>C U.S.A. ADRP [16]