ABCC7 p.Leu206Tyr
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PMID: 15776432
[PubMed]
Clain J et al: "Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype."
No.
Sentence
Comment
196
In contrast, CFTR misprocessing was induced specifically by different polar residues Glu (p.L206E), Arg (p.L206R), or Tyr (p.L206Y).
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ABCC7 p.Leu206Tyr 15776432:196:125
status: NEW197 Notably, the substitution by Tyr (p.L206Y), which differs from Phe only by a hydroxyl group, significantly reduced the processing efficiency when compared to p.L206F.
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ABCC7 p.Leu206Tyr 15776432:197:36
status: NEW