ABCMdb

PMID: 26161775

Xin W, Xiao X, Li S, Jia X, Guo X, Zhang Q
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
PLoS One. 2015 Jul 10;10(7):e0132635. doi: 10.1371/journal.pone.0132635. eCollection 2015., [PubMed]

Sentences

No. Mutations Sentence Comment

63 ABCA4 p.His55Arg Different patients with known mutations have different phenotypes, previously reports revealed that c.4773+1G>T and c.5196+1G>A associated with AMD (Age-related Macular Degeneration) and c.164A>G (p.H55R) associated with for cone-rod dystrophy [27-29], while homozygous c.4773+1G>T and compound heterozygous c.5196+1G>A and c.164A>G were associate with STGD in our study. Login to comment 68 ABCA4 p.Arg602Trp ABCA4 p.Arg602Trp ABCA4 p.Asn965Ser ABCA4 p.Asn965Ser ABCA4 p.Phe2188Ser ABCA4 p.Met1882Ile ABCA4 p.Met1882Ile ABCA4 p.Met2130Lys ABCA4 p.His55Arg ABCA4 p.Arg2040* ABCA4 p.Asp2095Val ABCA4 p.Leu2058Arg ABCA4 p.Leu2058Arg ABCA4 p.Glu1399* ABCA4 p.Arg2106Pro ABCA4 p.Tyr808* Patient Nucleotide Amino Acid State Computational Prediction Allele Frequency in Reported ID Change Change P/SS Proven SIFT 1000G EVS ExAC NC RC QT058 c.6173T>G p.L2058R Het PrD D D NA NA NA 0/192 0/456 Novel c.4773 +1G>T Splicing defect Het SSA NA NA NA NA NA - 0/456 Pang et al. 2002; Riveiro-Alvarez et al. 2013 QT085 c.6173T>G p.L2058R Het PrD D D NA NA NA 0/192 0/456 Novel c.5932delA p. K1978Qfs*13 Het NA NA NA NA NA NA 0/192 0/456 Novel QT292 c.6389T>A p.M2130K Het PoD D D NA NA NA - 0/456 Yi et al. 2012 c.6118C>T p.R2040* Het NA NA NA NA NA 2/121394 0/192 0/456 Baum et al. 2003 QT302 c.6816 +1G>A Splicing defect Het SSA NA NA NA NA NA - 0/456 Robert et al. 2014 c.4555delA p.T1519Rfs*7 Het NA NA NA NA NA NA 0/192 0/456 Novel QT398 c.4352 +1G>A Splicing defect Het SSA NA NA NA NA 1/121268 - 0/456 Ernest et al. 2009 c.1804C>T p.R602W Het PoD D D NA NA 6/119038 - 2/456 Lewis et al. 1999; Wiszniewski et al. 2005; Heathfield et al. 2013 QT431 c.5646G>A p.M1882I Het PoD D D NA NA 3/121340 - 0/456 Zernant et al. 2011 c.1804C>T p.R602W Het B D D NA NA 6/119038 - 2/456 Lewis et al. 1999; Wiszniewski et al. 2005; Heathfield et al. 2013 QT458 c.4555delA p.T1519Rfs*7 Het NA NA NA NA NA NA 0/192 0/456 Novel c.164A>G p.H55R Het PoD D D NA NA NA - 0/456 Thiadens et al. 2012 QT727 c.161-2A>G Splicing defect Het SSA NA NA NA NA NA 0/192 0/456 Novel c.101_106del p.S34_L35del Het NA NA NA NA NA NA 0/192 0/456 Novel QT833 c.2424C>G p.Y808* Het NA NA NA NA NA NA - 0/456 Zhou et al. 2014 c.1560delG p.V521Sfs*47 Het NA NA NA NA NA NA 0/192 0/456 Novel QT1137 c.6284A>T p.D2095V Het PrD D D NA NA NA 0/192 0/456 Novel c.22C>T p.Q8* Het NA NA NA NA 0.0001 NA 0/192 0/456 Novel QT1160 c.240_241del p.C81Ffs*17 Het NA NA NA NA NA NA 0/192 0/456 Novel c.101_106del p.S34_L35del Het NA NA NA NA NA NA 0/192 0/456 Novel QT1175 c.4195G>T p.E1399* Het NA NA NA NA NA 2/120596 0/192 0/456 Novel c.2894A>G p.N965S Het PrD D D NA 0.0001 21/ 121302 - 0/456 Allikmets et al. 1997; Shanks et al. 2013; Bertelsen et al. 2014 QT1182 c.4773 +1G>T Splicing defect Hom SSA NA NA NA NA NA - 0/456 Pang et al. 2002; Riveiro-Alvarez et al. 2013 QT1198 c.5646G>A p.M1882I Het B D D NA NA 3/121340 - 0/456 Zernant et al. 2011 c.2894A>G p.N965S Het PrD D D NA 0.0001 21/ 121302 - 0/456 Allikmets et al. 1997;Shanks et al. 2013; Bertelsen et al. 2014 QT1200 c.6563T>C p.F2188S Het B D D NA 0.0005 2/121380 - 1/456 Fukui et al. 2002 c.858+2T>A Splicing defect Het SSA NA NA NA NA NA - 0/456 Zhang et al. 2014 QT1230 c.6317G>C p.R2106P Het PrD D D NA NA NA 0/192 0/456 Novel c.101_106del p.S34_L35del Het NA NA NA NA NA NA 0/192 0/456 Novel QT1277 c.6479 +2T>C Splicing defect Het SSA NA NA NA NA NA 0/192 0/456 Novel (Continued) Table 1. Login to comment 69 ABCA4 p.Arg212Cys ABCA4 p.Met1882Ile ABCA4 p.Leu1541Pro ABCA4 p.Ala1598Gly (Continued) Patient Nucleotide Amino Acid State Computational Prediction Allele Frequency in Reported ID Change Change P/SS Proven SIFT 1000G EVS ExAC NC RC c.5196 +1G>A Splicing defect Het SSA NA NA NA NA 3/49858 - 0/456 Allikmets et al. 1997; Wiszniewski et al. 2005 QT1317 c.5646G>A p.M1882I Het PoD D D NA NA 3/121340 - 0/456 Zernant et al. 2011 c.4622T>C p.L1541P Het PrD D D NA NA NA 0/192 0/456 Novel MD19 c.4793C>G p.A1598G het PoD D N NA 0.0001 NA - 0/456 Maugeri et al. 2000; Cideciyan et al. 2009; Burke et al. 2010 c.634C>T p.R212C het D D D NA 0.0002 14/ 120056 - 0/456 Gerber et al.1998; Thiadens et al. 2012 The following abbreviations are used: P/SS, Polyphen-2/Splice Site Prediction; 1000G, 1000 Genomes; EVS, Exome Variant Server; ExAC, Exome Aggregation Consortium; Het, heterozygous; Hom, homozygous; NC, normal control; RC, relative control; PrD, probably damaging; PoD, possibly damaging; B, benign; SSA, splicing site abolished; N, neutral; D, damaging; and NA, not applicable;-, not done. Login to comment 82 ABCA4 p.Leu2058Arg More clinical information about these patients is listed in Table 2. doi:10.1371/journal.pone.0132635.g002 K1978Qfs 13 and L2058R in cytosolic nucleotide binding domain 1 and T1519Rfs 7 in exocytoplasmic domains 2. Login to comment 158 ABCA4 p.Ala1773Val Chacon-Camacho OF, Granillo-Alvarez M, Ayala-Ramirez R, Zenteno JC. ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. Login to comment