ABCMdb

ABCA4 p.Phe2188Ser

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Publications

PMID: 12202497 [PubMed] Fukui T et al: "ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa."

No. Sentence Comment

39 The IVS7-45_952delinsTCTGACC, IVS12ϩ2T3G, IVS12-50G3A, Ile604Ser, 1894delA, Glu1122Asp, Leu1583Pro, Gly1623Ser, IVS38-36delT, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles. Login to comment
46 ABCA4 Gene Sequence Variations Nucleotide change Effect STGD (20†) Control (192†) Reference IVS7-45_952delinsTCTGACC* Splice 0 0 This study IVS12ϩ2T3G* Splice 5 0 This study IVS12-50G3A Unkown 1 0 23 T1811G Ile604Ser 1 0 This study 1894delA Frameshift 1 0 This study G3366C Glu1122Asp 1 0 This study T4748C Leu1583Pro 1 0 This study G4867A Gly1623Ser 1 0 This study IVS38-36delT Unkown 1 0 This study A5644G Met1882Val 2 0 This study G5682C Leu1894Leu 4 32 12,13,14,16,22,23 A5814G Leu1938Leu 4 32 12,14,23 IVS41-11G3A Unkown 4 32 11,14,16,23 A5844G Pro1948Pro 4 32 11,12,14,16,22,23,24,27 T6285C Asp2095Asp 3 27 11,12,14,16,23 C6445T Arg2149Stop 1 0 15 T6563C Phe2188Ser 1 0 This study * Mutations observed in patients with arRP. Login to comment
61 The IVS7-45_952delinsTCTGACC, IVS12ϩ2T3G, Ile604Ser, 1894delA Glu1122Asp, Leu1583Pro, Gly1623Ser, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles tested, and hence these FIGURE 2. Login to comment
59 The IVS7-45_952delinsTCTGACC, IVS12af9;2T3G, Ile604Ser, 1894delA Glu1122Asp, Leu1583Pro, Gly1623Ser, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles tested, and hence these FIGURE 2. Login to comment

PMID: 26161775 [PubMed] Xin W et al: "Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis."

No. Sentence Comment

68 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