ABCC7 p.Phe316Leu

CF databases: c.948T>G , p.Phe316Leu (CFTR1) ? ,
Predicted by SNAP2: A: D (59%), C: N (53%), D: D (85%), E: D (80%), G: D (75%), H: D (75%), I: N (82%), K: D (80%), L: N (66%), M: N (78%), N: D (75%), P: D (85%), Q: D (71%), R: D (80%), S: D (71%), T: D (66%), V: N (78%), W: N (66%), Y: D (63%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: N,

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[hide] Buyse IM, McCarthy SE, Lurix P, Pace RP, Vo D, Bartlett GA, Schmitt ES, Ward PA, Oermann C, Eng CM, Roa BB
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
Genet Med. 2004 Sep-Oct;6(5):426-30., [PMID:15371908]

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[hide] Keiles S, Kammesheidt A
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Pancreas. 2006 Oct;33(3):221-7., [PMID:17003641]

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