ABCA1 p.Arg1068Trp
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PMID: 21763656
[PubMed]
Suetani RJ et al: "Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease."
No.
Sentence
Comment
137
Indeed, SIFT predicts any residue substitution at position 1068 to be tolerated except R1068W which does not align with the observation that p.R1068H and the p.R1068C mutation are associated with extremely reduced HDL levels [11,23].
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ABCA1 p.Arg1068Trp 21763656:137:87
status: NEW