ABCC7 p.Gly226Asp
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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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188
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.Gly226Asp 15209503:188:74
status: NEW189 It is also interesting to note that several mutantssincluding S222D, G226D, V232D, and Q237Dsdisplay locally slower migration rates.
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ABCC7 p.Gly226Asp 15209503:189:69
status: NEW