PMID: 20425068

Brunham LR, Kruit JK, Hayden MR, Verchere CB
Cholesterol in beta-cell dysfunction: the emerging connection between HDL cholesterol and type 2 diabetes.
Curr Diab Rep. 2010 Feb;10(1):55-60., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 20425068:20:104
status: NEW
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 Initial studies assessed the association of a presumed loss-of-function polymorphism in the ABCA1 gene, R230C, with metabolic parameters in a Mexican population [11]. Login to comment 25 ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 20425068:25:43
status: NEW
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 An important question has been whether the R230C variant is itself functional, or whether its association with metabolic parameters and diabetes represents linkage with another, functional variant in close proximity. Login to comment 26 ABCA1 p.Arg230Cys
X
ABCA1 p.Arg230Cys 20425068:26:41
status: NEW
view ABCA1 p.Arg230Cys details
 We studied the functional effects of the R230C variant in stable cell lines and found that it elicits approximately 30% less cholesterol efflux than wild-type ABCA1, indicating that this is a loss-of-function mutation, and explaining the deleterious phenotype observed in carriers of this variant (Samuel Canizales-Quinteros, Personal communication). Login to comment