ABCMdb

PMID: 22403555

Piehler AP, Ozcurumez M, Kaminski WE
A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration.
Front Psychiatry. 2012 Mar 5;3:17. doi: 10.3389/fpsyt.2012.00017. eCollection 2012., [PubMed]

Sentences

No. Mutations Sentence Comment

96 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys Among the allelic variants identified in the ABCA1 gene, the SNPs rs2230806 (R219K), rs4149313 (I883M), and rs2230808 (R1587K) have been most extensively studied. Login to comment 97 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys Among the allelic variants identified in the ABCA1 gene, the SNPs rs2230806 (R219K), rs4149313 (I883M), and rs2230808 (R1587K) have been most extensively studied. Login to comment 187 ABCA12 p.Ala1527Gly However, as rs3752246 encodes a glycine to alanine substitution at position 1527 of the protein, which is regarded as a benign change, this SNP is unlikely to be the relevant functional variant. Login to comment 188 ABCA12 p.Ala1527Gly However, as rs3752246 encodes a glycine to alanine substitution at position 1527 of the protein, which is regarded as a benign change, this SNP is unlikely to be the relevant functional variant. Login to comment