ABCC7 p.Phe508Ile
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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.Phe508Ile 15619636:92:224
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.Phe508Ile 15619636:113:121
status: NEW
PMID: 7539342
[PubMed]
Jezequel P et al: "Structural analysis of CFTR gene in congenital bilateral absence of vas deferens."
No.
Sentence
Comment
45
F508I R117H F5O8/ R1O7OW F508/A1067V 621+1G-*T /?
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ABCC7 p.Phe508Ile 7539342:45:0
status: NEW46 SF508/ SF508 SF508 / N1303K AF508/ G551D SF508 / 3272-26G--*A SF508 / 1078 delT F508/Y1092X SF508 / Ai507 F5O8 / G542X SF508 / 621+1G-T F508 / 3898 insC SF508 / 574 delA AF508 / G85E SF508 / W1282X N1303K/F311L G551D/F311L R553X I?
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ABCC7 p.Phe508Ile 7539342:46:0
status: NEW