ABCC7 p.Pro99Gly

ClinVar: c.296C>T , p.Pro99Leu ? , not provided
CF databases: c.296C>T , p.Pro99Leu (CFTR1) ? , This mutation was found together with [delta]F508 in a patient with extreme mild symptoms. It was found by SSCP and sequencing.
Predicted by SNAP2: A: D (85%), C: D (85%), D: D (80%), E: D (95%), F: D (91%), G: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), Q: D (91%), R: D (95%), S: D (85%), T: D (85%), V: D (91%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Sheppard DN, Welsh MJ
Structure and function of the CFTR chloride channel.
Physiol Rev. 1999 Jan;79(1 Suppl):S23-45., [PMID:9922375]

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[hide] Sheppard DN, Travis SM, Ishihara H, Welsh MJ
Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function.
J Biol Chem. 1996 Jun 21;271(25):14995-5001., [PMID:8663008]

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