ABCB1 p.Leu70Pro
| Predicted by SNAP2: | A: D (53%), C: N (61%), D: D (75%), E: D (71%), F: N (78%), G: D (71%), H: D (66%), I: N (97%), K: D (71%), M: N (72%), N: D (71%), P: D (75%), Q: D (63%), R: D (66%), S: D (63%), T: N (72%), V: N (87%), W: D (63%), Y: N (53%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Naturally occurring mutations and functional polym... J Med Genet. 2002 May;39(5):340-6. Potocnik U, Ravnik-Glavac M, Golouh R, Glavac D
Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers.
J Med Genet. 2002 May;39(5):340-6., [PMID:12011154]
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No. Sentence Comment
247 Table 1 Mutations and germline promoter functional polymorphism in the MDR1 gene identified in colorectal cancers with microsatellite instability Sample Origin Exon Nucleotide change Consequence Amino acid change Domain Consensus MSI 3 Germline Promoter +8 T>C* Somatic 25 3149 T>C I1050T Non-polar>polar IC6 Yes MSI 5 Germline Promoter +8 T>C* Somatic 4 209 T>C L70P Non-polar>non-polar TM1 Yes MSI 11 Somatic Promoter -14 G>T Germline 28 3793 G>A G1265S Non-polar>polar IC6 Yes MSI 19 Somatic Promoter -29 G>A Somatic 20 2422-2426 del A Frameshift IC4 MSI 22 Germline Promoter +8 T>C* MSI 34 Germline 8 729 A>G E243 no change / / / IC=intracelular domain, TM=transmembrane domain.
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ABCB1 p.Leu70Pro 12011154:247:363
status: NEW