ABCMdb

PMID: 24360806

He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.
Am J Hum Genet. 2014 Jan 2;94(1):33-46. doi: 10.1016/j.ajhg.2013.11.021. Epub 2013 Dec 19., [PubMed]

Sentences

No. Mutations Sentence Comment

177 ABCA7 p.Arg1812His ABCA7 p.Val1599Met ABCA7 p.Ala877Thr 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 ABCA7 p.Val1599Met ABCA7 p.Arg512Gly 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 ABCA7 p.Arg1812His ABCA7 p.Val1599Met ABCA7 p.Ala877Thr ABCA7 p.Arg512Gly ABCA7 p.Ala953Asp ABCA7 p.Gly332Glu ABCA7 p.Arg1782Trp ABCA7 p.Glu2108Lys ABCA7 p.Gly442Arg ABCA7 p.Thr1883Met 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