ABCC7 p.Asp979Glu

[switch to full view]
Comments [show]
Publications
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: NEW
Login to comment

83 similar to D979A, whereas D979E permitted the complete maturation of the protein (Fig. 1B).
X
ABCC7 p.Asp979Glu 11118444:83:26
status: NEW
Login to comment