ABCMdb

PMID: 26141617

Cuyvers E, De Roeck A, Van den Bossche T, Van Cauwenberghe C, Bettens K, Vermeulen S, Mattheijssens M, Peeters K, Engelborghs S, Vandenbulcke M, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Sleegers K
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
Lancet Neurol. 2015 Aug;14(8):814-22. doi: 10.1016/S1474-4422(15)00133-7. Epub 2015 Jun 30., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCA7 p.Glu188Gly One missense variant (ABCA7 Glu188Gly) had a nominally significant increased frequency in controls (0&#b7;49, n=703) compared with patients (0&#b7;46, n=746; p=0&#b7;003; appendix). Login to comment 75 ABCA7 p.Gly884Ser ABCA7 p.Ala589Gly ABCA7 p.Phe315Leu ABCA7 p.Ser1863Arg ABCA7 p.Arg1496Pro ABCA7 p.Pro1952Arg ABCA7 p.His1506Arg ABCA7 p.Met1998Thr ABCA7 p.Ala1441Val ABCA7 p.Glu167Lys ABCA7 p.Pro486Ala ABCA7 p.Glu1781Asp ABCA7 p.Arg1489Gln ABCA7 p.Arg1715Cys ABCA7 p.Pro1819Ala ABCA7 p.Ala845Val ABCA7 p.Asn766Asp ABCA7 p.Glu269Asp ABCA7 p.Trp1336Arg ABCA7 p.Glu255Gln ABCA7 p.Arg1561Gln ABCA7 p.Arg989His ABCA7 p.Lys2013Gln ABCA7 p.Ser598Asn ABCA7 p.Arg1090Gln ABCA7 p.Val462Met ABCA7 p.Ala196Pro ABCA7 p.Arg524Trp ABCA7 p.Val1487Gly ABCA7 p.Gly1820Ser ABCA7 p.Glu574Asp ABCA7 p.Arg976Cys ABCA7 p.Thr1106Met ABCA7 p.Arg475Lys H2N COOH Extracellular Intracellular p.Glu709fs p.Leu1254del p.Val541fs p.Gln1401fs p.Ala2045fs p.His1506Arg p.Arg989His p.Pro1819Ala p.Gly1820Ser p.Glu167Lys p.Ala196Pro p.Glu255Gln p.Glu269Asp p.Phe315Leu p.Arg1564* p.Val462Met p.Arg475Lys p.Pro486Ala p.Arg524Trp p.Glu574Asp p.Ala589Gly p.Ser598Asn p.Asn766Asp p.Ala845Val p.Gly884Ser p.Arg976Cys p.Arg1090Gln p.Thr1106Met p.Trp1336Arg p.Ala1441Val p.Val1487Gly p.Arg1489Gln p.Arg1496Pro p.Val1536IIe p.Arg1561Gln p.Arg1715Cys p.Glu1781Asp p.Ser1863Arg p.Pro1952Arg p.Met1998Thr p.Lys2013Gln p.Trp1214* ABC-I ABC-II See Online for appendix canonical splice site mutation, and three variations near canonical splice or donor sites only in patients. Login to comment