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 |