Novel single nucleotide polymorphisms leading to amino acid variations identified in autosomal dominant retinitis pigmentosa genes
Gene | Nucleotide change | Amino acid change |
---|---|---|
IMPDH1 | 1142A→G | H381R |
NRL | 199C→T | P67S |
FSCN2 | 412C→T | H138Y |
RP1 | 5448C→A | C1816X |
RP1 | 1380G→C | K460N |
RP1 | 4735T→G | L1579V |
RP1 | 1705A→G | T569A |