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