ABCMdb

ABCA7 p.Val1599Met

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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
178 Only in one trio, two transmission events were observed in ABCA7, c.1534C>G (p.Arg512Gly), and c.4795G>A (p.Val1599Met). 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