ABCC7 p.Phe508His
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PMID: 15619636
[PubMed]
Thibodeau PH et al: "Side chain and backbone contributions of Phe508 to CFTR folding."
No.
Sentence
Comment
92
The known polymorphism F508C and the non-CF-causing variant F508S both showed measurable quantities of band C at steady-state levels, as would be expected for non-CF-causingsubstitutions.Thehydrophobicaminoacidsubstitutions F508I,F508W and F508Y did not produce substantial steady-state levels of band C as measured by western blotting, nor did the ionizable amino acid substitutions F508D, F508E, F508K, F508H or F508R.
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ABCC7 p.Phe508His 15619636:92:405
status: NEW113 W ild type ∆∆F508 F508 F508D F508K F508E F508R F508H F508S F508T F508N F508Q C B Charged Polar F508A F508C F508I F508L ∆F508 F508 W ild type C B F508W F508Y F508G F508P Hydrophobic F508M F508V ̅̆ ̆ ̅ Figure 3 Maturation of full-length CFTR mutants.
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ABCC7 p.Phe508His 15619636:113:61
status: NEW