ABCB1 p.Pro996Gln
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PMID: 21298007
[PubMed]
Moitra K et al: "Molecular evolutionary analysis of ABCB5: the ancestral gene is a full transporter with potentially deleterious single nucleotide polymorphisms."
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Sentence
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130
With the aid of SIFT analysis we found that a number of the substitutions were not tolerated including: F155V, R260K, Q262K, I369V, D370G, G810V, P996Q, C1054W, K1056E, E1124K and D1187G.
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ABCB1 p.Pro996Gln 21298007:130:146
status: NEW204 In silico prediction of functional significance of ABCB.ts non-synonymous cSNPs calculated using Panther. Substitution subPSEC score P66L 25.10163 T131I 23.1368 F155V 27.05629 R260K 22.69866 Q262K 23.89135 I369V 23.98202 D370G 24.70914 M446T 23.64169 K560E 26.12726 K669R 23.1384 G810V 24.6663 A857T 22.52579 Q905H 24.03142 A915T 23.86813 E970K 22.81761 P996Q 4.62436 C1054W 28.89455 I1093T 24.64248 E1124K 23.58989 D1187G 26.60494 doi:10.1371/journal.pone.0016318.t004 Table 3.
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ABCB1 p.Pro996Gln 21298007:204:354
status: NEW