Table 2 of Maia-Lopes, Mol Vis 2009; 15:584-591.


Table 2. ABCA4 polymorphisms (GDB370748, GenBank U88667.1) detected in Portuguese STGD patients.

Exon Nucleotide Change Effect STGD Families Frequency References
IVS3 c.302+20C>T - 12 4.8% [6]
IVS3 c.302+26A>G - 7,12,13,14 1.91% [6]
6 c.635G>A p.Arg212His 13,19 9.5% [15]
IVS7 c.859+8T>C - 17 4.8% Present study
10 c.1268A>G p.His423Arg 2,4,5,6,10,11,12,13,14,18,19 53% [13]
10 c.1269C>T p.His423His 16 4.8% [13]
IVS10 c.1356+5delG SPLICE 1,7,11,15,20 23.8% [13]
IVS14 c.2161+47T>C 18 4.8% Present study
19 c.2828G>A p.Arg943Gln 3,10,18,19 19.1% [5]
IVS19 c.2919+34C>T - 12 4.8% Present study
20 c.2964T>C p.Leu988Leu 12 4.8% [6]
IVS22 c.3326–19G>A - 2 4.8% Present study
IVS33 c.4773+48C>T Splice 1,2,3,5,6,8,9,10,12,13,14,16,17,18,19,20 76.2% [13]
40 c.5603A>T p.Asn1868Ile 4,10,17 14.3% [6]
40 c.5682G>C p.Leu1894Leu 1,2,4,5,8,10,12,13,17,18 47.6% [6]
41 c.5814A>G p.Leu1938Leu 1,2,5,8,10,12,13,18 3.81% [6]
42 c.5843CA>TG/c.5843C>T p.Pro1948Leu 11 4.8% [14]
42 c.5844A>G p.Pro1948Pro 1,2,5,8,10,12,13 33.3% [14]
44 c.6069C>T p.Ile2023Ile 9,12,14,19 19.1% [6]
45 c.6249C>T p.Ile2083Ile 9,12,14,19 19.1% [5]
46 c.6285T>C p.Asp2095Asp 1,2,8,9,10,12,14,19 38.1% [14]
IVS48 c.6769+21C>T SPLICE 1,10 9.5% [6]
49 c.6764G>T p.Ser2255Ile 1,9,14,19 19.1% [5]