ABCMdb

ABCA7 p.Ala877Thr

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Publications

PMID: 24360806 [PubMed] He Z et al: "Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data."

No. Sentence Comment

177 Three missense variants had multiple transmission events: c.2629G>A (p.Ala877Thr) had a minor-allele-transmitted event in five trios and a major-allele-transmitted event in one trio, c.5435G>A (p.Arg1812His) had a minor-allele-transmitted event in three trios and a major-allele-transmitted in one trio, and c.4795G>A (p.Val1599Met) had a minor-allele-transmitted event in two trios (Table 2). Login to comment
259 Bioinformatic Evaluation and Frequencies of Rare Missense Variants within ABCA7 Chr19 Position Nucleotide Substitutiona PhyloPb GERPc Amino Acid Substitution PolyPhen-2 SIFT MutationTaster Mutation Assessor Transmitted/ Non-transmitted Events dbSNP rsID NHLBI-ESP EA MAFd NHLBI-ESP AA MAFd 1,043,788e c.995G>A 2.90 4.33 p.Gly332Glu Probably damaging Damaging Polymorphism Functional, medium 1/0 NA NA NA 1,045,109 c.1324G>A 0.28 2.54 p.Gly442Arg Possibly damaging Tolerated Polymorphism Nonfunctional, low 1/0 NA NA NA 1,046,317 c.1534C>G 0.04 1.11 p.Arg512Gly Benign Tolerated Polymorphism Neutral 1/0 NA 0.0001 0 1,050,996 c.2629G>Af 1.18 2.59 p.Ala877Thr Benign Tolerated Polymorphism Nonfunctional, low 5/1 rs74176364 0.006 0.003 1,051,481 c.2858C>A 4.96 4.43 p.Ala953Asp Probably damaging Damaging Disease-causing Functional, high 1/0 NA NA NA 1,057,343 c.4795G>Af 1.58 3.65 p.Val1599Met Probably damaging Damaging Polymorphism Functional, medium 2/0 rs117187003 0.004 0.0009 1,058,883 c.5344C>T 1.58 3.14 p.Arg1782Trp Probably damaging Damaging Disease-causing Functional, medium 1/0 NA 0.0003 0 1,059,056 c.5435G>Af 1.28 0.81 p.Arg1812His Benign Damaging Polymorphism Neutral 3/1 rs114782266 0.005 0.07 1,062,248 c.5648C>T 4.87 3.61 p.Thr1883Met Probably damaging Damaging Disease-causing Functional, high 1/0 NA 0 0.0002 1,065,305 c.6322G>Af 2.08 3.73 p.Glu2108Lys Benign Tolerated Polymorphism Functional, medium 1/0 rs139706726 0.0002 0 a cDNA position is based on reference sequence NM_019112.3. Login to comment