ABCC7 p.Asp979Glu
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PMID: 11118444
[PubMed]
Clain J et al: "Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function."
No.
Sentence
Comment
72
Asp-979 was changed to Val (small hydrophobic residue; D979V), Arg (positively charged residue; D979R), or Glu (negatively charged residue; D979E).
X
ABCC7 p.Asp979Glu 11118444:72:140
status: NEW83 similar to D979A, whereas D979E permitted the complete maturation of the protein (Fig. 1B).
X
ABCC7 p.Asp979Glu 11118444:83:26
status: NEW