ABCB1 p.Ile1050Thr
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PMID: 12011154
[PubMed]
Potocnik U et al: "Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers."
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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.
X
ABCB1 p.Ile1050Thr 12011154:247:282
status: NEW