Figure 3. Summary of the Retinitis
Pigmentosa 1 (RP1) mutation pattern in patients with retinitis
pigmentosa among different ethnic populations. Most RP1
mutations are single nucleotide substitutions producing a premature
stop codon or insertion/deletion changes resulting in a truncated
protein. Only a few missense variants have been found to be disease
causing. So far only in Chinese missense variants have been found to be
more than truncated mutations.