ABCC7 p.Gly228Asp
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PMID: 15209503
[PubMed]
Choi MY et al: "Non-native interhelical hydrogen bonds in the cystic fibrosis transmembrane conductance regulator domain modulated by polar mutations."
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Sentence
Comment
89
Interestingly, mutants G228D through I231D, and L233D through F236D, have a more negative value of the percent of MW decrease relative to the wt than the CF-phenotypic mutant V232D (Figure 3b) (see the Discussion).
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ABCC7 p.Gly228Asp 15209503:89:23
status: NEW180 Therefore, without Q237 (i.e., with Q237 mutated to Leu), the X f D mutants in TM4 become more open through regions encompassing A221D to G228D, and Q237D to G241D, and are ultimately unable to form an H-bond with Q207.
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ABCC7 p.Gly228Asp 15209503:180:138
status: NEW188 Nevertheless, for any A f D or G f D mutants (in this case, A221D, A223D, G226D, G228D, A234D, A238D, G239D, and G241D), only a single-base change is required, and therefore, it is possible these mutants represent potential phenotypic CF mutants, which have yet to be discovered.
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ABCC7 p.Gly228Asp 15209503:188:81
status: NEW