ABCC7 p.Ala238Asp
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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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119
Our results indicate a discrete role for Q237, viz., the double mutants F224D/ Q237L, A238D/Q237L and G239D/Q237Lsin which the D locus is nearer to the Nor C-terminus of the TM4 helixs returned to the wt migration rate.
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ABCC7 p.Ala238Asp 15209503:119:86
status: NEW178 From the results (Figures 5 and 7), we found that double mutants where D is relatively distant from Q207 in TM3 (F224D/ Q237L, A238D/Q237L, and G239D/Q237L) returned to the wt migration rate, whereas the other double mutants (V232D/ Q237L and L230D/Q237L) migrated more slowly than the corresponding D mutants, but still significantly faster than the wt construct.
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ABCC7 p.Ala238Asp 15209503:178:127
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.Ala238Asp 15209503:188:95
status: NEW