ABCMdb

ABCB1 p.Gly1265Ser

None has been submitted yet.

Publications

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."

No. Sentence Comment

214 (A) Germline mutation in exon 28 of the MDR1 gene identified in tumour sample MSI 11. Arrow indicates G>A substitution at position 3793 resulting in an amino acid change at position 1265 from non-polar glycine to polar serine (G1265S). Login to comment
240 The germline G1265S substitution identified in sample MSI 11 was of special interest (fig 2). Login to comment
242 G1265S was also the only germline alteration that resulted in substitution of an amino acid conserved through species; in this case non-polar Gly is replaced by polar Ser. The G1265S substitution is located in the predicted IC12 domain after the ATP binding site. Login to 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. Login to comment

PMID: 15505619 [PubMed] Potocnik U et al: "Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis."

No. Sentence Comment

75 We previously identified G1265S in exon 28 in a patient with CRC.12,13 Neither of these two mutations was additionally identified in any other CRC or IBD patient nor in 355 healthy individuals. Login to comment