ABCC7 p.Leu24Phe

ClinVar: c.72G>C , p.Leu24Phe ? , not provided
CF databases: c.72G>C , p.Leu24Phe (CFTR1) ? , This mutation was identified in cis with the novel mutation 296+2T to G on one Italian CF chromosome. The other chromosome shows a delF508 mutation
Predicted by SNAP2: A: D (53%), C: N (57%), D: D (85%), E: D (80%), F: N (87%), G: D (80%), H: D (75%), I: N (87%), K: D (80%), M: N (93%), N: D (75%), P: D (85%), Q: D (66%), R: D (75%), S: D (71%), T: D (66%), V: N (82%), W: D (71%), Y: D (71%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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[hide] Lucarelli M, Bruno SM, Pierandrei S, Ferraguti G, Stamato A, Narzi F, Amato A, Cimino G, Bertasi S, Quattrucci S, Strom R
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Mol Med. 2015 Apr 21;21:257-75. doi: 10.2119/molmed.2014.00229., [PMID:25910067]

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