Table 3 of Rosenberg, Mol Vis 2007; 13:1962-1969.


Table 3. Overview of detected potential disease-associated ABCA4 variants and their allelic distribution

The table enumerates all allegedly disease-associated ABCA4 variants and the number of each mutation carrying allele. Two complex alleles, c.1622T>A/c.3113C>T and c.5714+ 5G>A/c.5653G>A were recognized.

                                  Alleles                                   Alleles
 Mutation          Effect           (N)       Mutation         Effect         (N)
-----------   -----------------   -------   -------------   -------------   -------
c.194G>A      p.G65E                 1        c.4139C>T       p.P1380L         1
c.203C>T      p.P68L                 1        c.4216C>T       p.H1406Y         1
c.214G>A      p.G72R                 1        c.4222T>C       p.W1408R         1
c.455G>A      p.R152Q                1        c.4234C>T       p.Q1412X         1
c.634C>T      p.R212C                2        c.4363T>C       p.C1455R         1
c.656G>C      p.R219T                3        c.4462T>C       p.C1488R         1
c.666del13    Frameshift             3        c.4469G>A       p.C1490Y         2
c.768G>T      Splice/p.V256V         3        c.4685T>C       p.I1562T         4
c.1622T>C                                     c.4854G>A       p.W1618X         1
c.3113C>T     p.L541P/p.A1038V       14       c.4918C>T       p.R1640W         2
c.1937+1G>A   Splice                 1        c.4919G>A       p.R1640Q         1
c.1648G>A     p.G550R                1        c.4667+2T>G     Splice           2
c.1819G>A     p.G607R                2        c.4999C>A       p.Q1667K         1
c.1822T>A     p.F608I                1        c.5196+2T>G     Splice           1
c.1822T>C     p.F608L                1        c.5461-10T>C                     13
c.1928T>G     p.V643G                1        c.5584+6T>C     Splice           2
c.1957C>T     p.R653C                1        c.5653G>A       E1885K           3
c.2041C>T     p.R681X                2        c.5693G>A       p.R1898H         2
c.2300T>A     p.V767D                1        c.5714+5G>A     Splice           2
c.2564G>A     p.W855X                1        c.5714+5G>A
c.2588G>C     p.G863A/p.delG863      30       c.5653G>A       Splice/E1885K    3
c.2701A>G     p.T901A                1        c.5882G>A       p.G1961E         12
c.2894A>G     p.N965S                32       c.5908C>T       p.L1970F         1
c.2915C>A     p.T972N                2        c.5917delG      Frameshift       2
c.3056T>C     p.T1019M               2        c.6079C>T       p.L2027F         1
c.3113C>T     p.A1038V               5        c.6089G>A       p.R2030Q         5
c.3329-2A>G   Splice                 5        c.6118C>T       p.R2040X         1
c.3259G>A     p.E1087K               1        c.6229C>T       p.R2077W         6
c.3292C>T     p.R1098C               1        c.6320G>A       p.R2107H         1
c.3322C>T     p.R1108C               9        c.6449G>A       p.C2150Y         1
c.3758C>T     p.T1253L               1        c.6529G>A       p.D2177N         2

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