ABCA7 p.Ala845Val
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PMID: 26141617
[PubMed]
Cuyvers E et al: "Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study."
No.
Sentence
Comment
75
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.
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ABCA7 p.Ala845Val 26141617:75:316
status: NEW