Table 1 of
Valverde, Mol Vis 2006;
12:902-908.Table 1 of
Valverde, Mol Vis 2006;
12:902-908.
Table 1.
ABCA4 mutations found in patients with Stargardt disease in this study.
Amino acid
Nucleotide change change Cases Exon Reference
------------------ ------------- ----- ---- ---------
c.455G>A R152Q 3 5 [30]
c.466A>G I156V 3 5 [17]
c.634G>T R212C 6 6 [31]
c.671 del C p.V195fs 2 6 [22]
c.768G>T V256 Splice 1 6 [16]
c.1140T>A N380K 1 9 [21]
c.1804C>T R602W 4 13 [15]
c.2300T>A V767D 1 15 [23]
c.2546T>C V849A 1 16 [21]
c.2588G>C G863A/G863del 1 17 [9]
c.2690C>T T897I 1 18 [16]
c.2701A>G T901A 2 18 [18]
c.2791G>A V931M 1 19 [15]
c.2888 del G p.L934fs 2 19 [9]
c.3056C>T T1019M 2 21 [11]
c.3163C>T R1055W 1 21 [20]
c.3211_3212 ins GT p.D1048fs 3 22 [9]
c.3322C>T R1108C 5 22 [15]
c.3323C>A R1108H 1 22 [21]
c.3364G>A E1122K 1 23 [15]
c.3386G>T R1129L 22 23 [6]
c.3758C>T T1253L 1 25 [18]
c.4139C>T P1380L 1 28 [15]
c.4222T>C W1408R 2 28 [15]
c.4457C>T P1486L 2 30 [15]
c.4469G>A C1490Y 1 30 [21]
c.4926C>G S1642R 1 34 [32]
c.4918C>T R1640W 2 35 [11]
c.5395A>G N1799D 1 38 [21]
c.5547+5G>A Splice 3 40 [7]
c.5653G>A E1885K 1 40 [18]
c.5819T>C L1940P 3 41 [20]
c.5882G>A G1961E 10 42 [9]
c.5929G>A G1977S 3 43 [11]
c.6179T>G L2060R 1 45 [20]
c.6320G>C R2107P 1 46 [9]
c.6320G>A R2107H 4 46 [11]
c.6449G>A C2150Y 1 47 [33]
c.6721C>G L2241V 1 48 [18]
c.6764G>T S2255I 10 49 [25]
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