ABCC7 p.Arg518Ala
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PMID: 15673927
[PubMed]
Tsigelny I et al: "Identification of molecular determinants that modulate trafficking of DeltaF508 CFTR, the mutant ABC transporter associated with cystic fibrosis."
No.
Sentence
Comment
172
The putative basic amino acid and tyrosine-based trafficking signals were altered by site-directed mutagenesis to eliminate the canonical trafficking signal sequences at the 516-520 site by changing the Tyr-517 and Arg-518 residues to Ala (this variant designated Y517A:R518A ∆F508 CFTR).
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ABCC7 p.Arg518Ala 15673927:172:215
status: NEW