ABCA4 p.Leu1541Pro
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PMID: 26161775
[PubMed]
Xin W et al: "Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis."
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Sentence
Comment
69
(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.
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ABCA4 p.Leu1541Pro 26161775:69:362
status: NEW