ABCA1 p.Leu1026Pro

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PMID: 20800056 [PubMed] Berge KE et al: "Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol."
No. Sentence Comment
119 Two mutations identified in their study, L1026P and E1386Q, were predicted to be benign based on the PolyPhen scores but were shown by in vitro cholesterol efflux assays to reduce cholesterol efflux.
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ABCA1 p.Leu1026Pro 20800056:119:41
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PMID: 16429166 [PubMed] Brunham LR et al: "Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene."
No. Sentence Comment
97 Using the set of 12 ABCA1 variants described by Cohen et al. [14] for which macrophage efflux is reported as a second dataset, the PANTHER prediction differs significantly from PolyPhen in one case, where PANTHER correctly predicts that L1026P will be deleterious (efflux rates 2 SDs below control levels), while PolyPhen predicts the substitution will be benign.
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ABCA1 p.Leu1026Pro 16429166:97:237
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110 DOI: 10.1371/journal.pgen.0010083.g003 Table 3. subPSEC Scores for ABCA1 Variants Described in a Cohort of Individuals with Low HDL Cholesterol from the General Population Variant subPSEC Score Macrophage Efflux PolyPhen D1706N À6.57 0.38a Possibly damaging C1477F À5.55 0.34a Probably damaging W590S À5.19 - Probably damaging H551D À4.99 0.32a Probably damaging P85L À4.62 0.8 Probably damaging W590L À4.48 0.31a Probably damaging N1800H À4.23 0.27a Possibly damaging R965C À4.22 0.59 Probably damaging S1731C À4.21 0.28a Possibly damaging A1670T À4.2 - Possibly damaging K401Q À4.2 - Benign T459P À4.11 0.28a Possibly damaging R638Q À4.08 - Possibly damaging L1026P À3.86 0.25a Benign T2073A À3.84 0.28a Possibly damaging E815G À3.53 - Probably damaging R1615Q À3.45 - Possibly damaging S1181F À3.44 - Possibly damaging R306H À3.31 - Benign E1386Q À2.44 0.51 Benign S1376G À2.19 - Benign R1341T À2.09 - Possibly damaging D2243E À1.6 - Benign P248A À0.18 - Benign a Efflux value is 2 SDs or more below control levels of 0.52 6 0.07.
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ABCA1 p.Leu1026Pro 16429166:110:661
status: NEW
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ABCA1 p.Leu1026Pro 16429166:110:726
status: NEW
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