ABCMdb

PMID: 25139735

Lee W, Noupuu K, Oll M, Duncker T, Burke T, Zernant J, Bearelly S, Tsang SH, Sparrow JR, Allikmets R
The external limiting membrane in early-onset Stargardt disease.
Invest Ophthalmol Vis Sci. 2014 Aug 19;55(10):6139-49. doi: 10.1167/iovs.14-15126., [PubMed]

Sentences

No. Mutations Sentence Comment

85 ABCA4 p.Arg1108Cys ABCA4 p.Glu160* Summary of Demographic, Clinical and Genetic Characteristics Patient Age, y Ethnicity BCVA Snellen, logMAR Fishman Stage FFERG Group Flecks Estimated Disease Duration, yߤ ABCA4 Disease-Associated Alleles OD OS Allele 1 Allele 2 P1 10 Caucasian 20/30 (0.18) 20/25 (0.01) 1 1 Early 1 p.E160* p.R1108C P2 10 Caucasian 20/70 (0.54) 20/80 (0.60) 2 2 Early-late 0.5 p. Login to comment 86 ABCA4 p.Leu541Pro [L541P;A1038V] ND P3 7 Caucasian 20/40 (0.30) 20/30 (0.18) 1 1 ND p. Login to comment 87 ABCA4 p.Leu541Pro ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu [L541P;A1038V] ND P4 13 Caucasian 20/80 (0.60) 20/50 (0.40) 2 1 Mid ND p.P1380L c.5714&#fe;5G>A P5 14 Caucasian 20/200 (1.00) 20/150 (0.88) 1 1 Late 0.5 p.P1380L c.5714&#fe;5G>A P6 13 Caucasian 20/40 (0.30) 20/50 (0.40) 2 1 Late ND p. Login to comment 88 ABCA4 p.Leu541Pro ABCA4 p.Leu2027Phe [L541P;A1038V] p.L2027F P7 8 Caucasian n/a n/a 1 n/a ND p. Login to comment 89 ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe ABCA4 p.Arg1108Cys ABCA4 p.Thr972Asn ABCA4 p.Arg2077Trp ABCA4 p.Gln1412* ABCA4 p.Arg2030* [L541P;A1038V] p.L2027F P8 10 Caucasian 20/40 (0.30) 20/80 (0.60) 1 1 None-early 1 p.R1108C p.Q1412* P9 14 Caucasian 20/100 (0.70) 20/100 (0.70) 2 1 Early-late 0.5 p.T972N p.L2027F P10 9 Caucasian 20/150 (0.88) 20/400 (1.30) 2 1 Late ND c.5312&#fe;1G>A p.R2030* P11 15 Caucasian 20/200 (1.00) 20/200 (1.00) 2 2 Mid-late 3 p.L2027F p.R2077W P12 5 Caucasian 20/30 (0.18) 20/40 (0.30) 1 n/a ND c.5018&#fe;2T>C p.G1961E P13 10 Caucasian 20/200 (1.00) 20/200 (1.00) 2 2 Mid 4 p. Login to comment 90 ABCA4 p.Leu541Pro ABCA4 p.Arg1640Trp [L541P;A1038V] p.R1640W P14 12 Caucasian 20/200 (1.00) 20/200 (1.00) 2 2 Late 6 p. Login to comment 91 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Leu541Pro ABCA4 p.Arg1640Trp ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Lys346Thr ABCA4 p.Thr1117Ile [L541P;A1038V] p.R1640W P15 16 Caucasian 20/200 (1.00) 20/200 (1.00) 2 n/a Mid-late 8 p.K346T p.T1117I P16 9 Caucasian 20/150 (0.88) 20/150 (0.88) 1 n/a 1 p.P1380L p.G1961E P17 18 Caucasian 20/40 (0.30) 20/150 (0.88) 1 1 Early 3 p.P1380L p.G1961E P18ߥ 18 Caucasian 20/150 (0.88) 20/150 (0.88) 2 1 Late 4 p. Login to comment 92 ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Leu2027Phe [L541P;A1038V] p.L2027F P19 16 Caucasian 20/150 (0.88) 20/150 (0.88) 1 n/a Early 6 p.G863A p. Login to comment 93 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly863Ala ABCA4 p.Arg1640Trp ABCA4 p.Arg2030Gln ABCA4 p.Trp821Arg ABCA4 p.Cys2150Tyr ABCA4 p.Trp1408Arg ABCA4 p.Arg537Cys ABCA4 p.Lys1547* ABCA4 p.Ala1773Val [W1408R;R1640W] P20 18 African American 20/125 (0.80) 20/50 (0.40) 2 2 Mid 5 p.R1640W ND P21 12 Caucasian 20/50 (0.40) 20/50 (0.40) 1 1 6 p.W821R p.C2150Y P22 17 Indian 20/40 (0.30) 20/100 (0.70) 1 n/a Mid 3 p.G1961E c.6729&#fe;4_&#fe;18del P23 10 Indian 20/400 (1.30) 20/400 (1.30) 2 2 Early 3 c.885delC p.R537C P24 19 Caucasian 20/20 (0.00) 20/20 (0.00) 1 n/a ND p.G863A c.5898&#fe;1G>A P25 16 Middle Eastern 20/80 (0.60) 20/100 (0.70) 1 1 4 p.A1773V p.G1961E P26 17 Caucasian 20/150 (0.88) 20/200 (1.00) 1 1 2 p.K1547* p.R2030Q ND, not determined; n/a, not available. Login to comment