PMID: 17510949

Chu LW, Li Y, Li Z, Tang AY, Cheung BM, Leung RY, Yik PY, Jin DY, Song YQ
A novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer's disease in Chinese.
Am J Med Genet B Neuropsychiatr Genet. 2007 Dec 5;144B(8):1007-13., [PubMed]
Sentences
No. Mutations Sentence Comment
133 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 17510949:133:7
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Lys1587Arg
X
ABCA1 p.Lys1587Arg 17510949:133:120
status: NEW
view ABCA1 p.Lys1587Arg details
 SNP18 (R219K) is in an N-terminal extracellular loop which possibly mediates ABCA1 interaction with ApoAI; while SNP10 (K1587R) is located in the regulatory segment 2 of the protein [Fitzgerald et al., 2002; Frikke-Schmidt et al., 2004]. Login to comment