ABCG2 p.Thr237Val
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PMID: 17027309
[PubMed]
Li YF et al: "Towards understanding the mechanism of action of the multidrug resistance-linked half-ABC transporter ABCG2: a molecular modeling study."
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125
Two other NBD mutations, T237V and I239K (OP and SEB, unpublished results), are located near the conserved H-motif in a surface cleft; while the former was fully functional, the latter could not be detected on the cell surface.
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ABCG2 p.Thr237Val 17027309:125:25
status: VERIFIED126 In the model, the side chain of T237 is fully exposed to the solvent, a prediction that is consistent with the normal activity of the T237V mutant.
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ABCG2 p.Thr237Val 17027309:126:134
status: VERIFIED174 Subsequently, a symmetric dimer Y.-F Li et al. / Journal of Molecular Graphics and Modelling 25 (2007) 837-851844 Table 4 Locations of mutations as predicted by the ABCG2 model and functional correlation Mutation Position in ABCG2 Phenotype Reference V12M N-terminal Membrane localization, SNP, and somewhat lower expression and lower resistance [22] S25Pa N-terminal Low drug resistance for the cell line due to lower expression at cell surface [42] T82Aa NBD, Walker A Low drug resistance for the cell line due to lower expression at cell surface [42] K86M NBD, Walker A No expression at cell surface, retained in the Golgi [43] K86I NBD, Walker A No expressed at cell surface [43] Q141K NBD SNP with lower protein expression and low drug resistance [22,23] T237V NBD Fully functional b I239K,R NBD Loss of expression may be due to structural disruption b R309G Linkerc Low drug resistance [42] D315-6 Linker Deletion mutant for A315 and T316.
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ABCG2 p.Thr237Val 17027309:174:760
status: VERIFIED