ABCC7 p.Ala221Asp
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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."
No.
Sentence
Comment
180
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.Ala221Asp 15209503:180:129
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.
X
ABCC7 p.Ala221Asp 15209503:188:60
status: NEW