Table 4 of
Paun, Mol Vis 2012; 18:2447-2453.
Table 4. Sequence variants identified by sequence analysis of the MFRP and RP1 gene.
Gene | Exon | cDNA | Protein | SNP number |
---|---|---|---|---|
MFRP | 1 | c.-88C>T | - | rs883245 |
1 | c.-65G>A | - | rs883246 | |
1 | c.-31G>A | - | rs883247 | |
4 | c.406G>A | p.Val136Met | rs3814762 | |
5 | c.540T>C | p.His180= | rs2510143 | |
5 | c.492C>T | p.Tyr164= | rs36015759 | |
RP1 | 4 | c.5175A>G | p.Gln1725= | rs441800 |
4 | c.2615G>A | p.Arg872His | rs444772 | |
4 | c.5071T>C | p.Ser1691Pro | rs414352 |