ABCA1 p.Cys1359Arg
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 25751400
[PubMed]
van Leeuwen EM et al: "Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels."
No.
Sentence
Comment
41
This missense variant changes the amino acid cysteine into arginine at position 1359 (Cys1359Arg) and is predicted to be damaging for the structure and function of the protein by Polyphen2 (ref. 12), MutationTaster13 and LRT14.
X
ABCA1 p.Cys1359Arg 25751400:41:86
status: NEW