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]

Valverde, Mol Vis 2006; 12:902-908 <http://www.molvis.org/molvis/v12/a102/>
©2006 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535