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

Rosenberg, Mol Vis 2007; 13:1962-1969 <http://www.molvis.org/molvis/v13/a221/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535