Table 4 of
Rosenberg, Mol Vis 2007;
13:1962-1969.
Table 4. Common polymorphisms and the number of involved alleles
Non-disease causing variants are extremely common among patients with Stargardt-related retinopathies. Most patients harbour several polymorphisms, which to some extent are linked indicating conserved haplotypes. Only a selected extract of polymorphisms are shown in the table.
Alleles Mutation Effect (N) ------------ -------- ------- c.635G>A p.R212H 9 c.1268A>G p.H423R 59 c.1269C>T p.H423H 23 c.1356+5delG 95 c.2828G>A p.R943Q 32 c.4203C>A p.P1401P 47 c.4506C>T p.C1502C 1 c.4773+48C>T 127 c.5603A>T p.N1868I 62 c.5682G>C p.L1894L 129 c.5814A>G p.L1938L 66 c.5843CA>TG p.P1948L 14 c.5844A>G p.P1948P 12 c.6069C>T p.I2023I 12 c.6249C>T p.I2083I 13 c.6285T>C p.D2095D 28 c.6764G>T p.S2255I 5 c.6729+21C>T 11 |