Table 3. Clinical classification of rhodopsin RP mutations.
Phenotype | Mutation | Reference |
---|---|---|
Class A | L88P1, L131P1, R135L/G/W2, E181K2, Q344P1, V345L2, P347L2 |
1Audo et al., (2010) 2Cideciyan et al., (1998) 3Iannaccone et al., (2006) |
Class B | N15S1, T17M2, P23H2, T58R2, Q64ter2, V87D2, G89D2, G106R2, P180A3, G188R3, D190G/Y2, T193M2, M207K2, Q312ter2, T342M2, Q344ter2 |
1Audo et al., (2010) 2Cideciyan et al., (1998) 3Iannaccone et al., (2006) |