ABCC7 p.Ser341Pro

Admin's notes: Class II-III (maturation defect, gating defect) Veit et al.
ClinVar: c.1021T>C , p.Ser341Pro D , Pathogenic
CF databases: c.1021T>C , p.Ser341Pro D , CF-causing ; CFTR1: This homozygous mutation was identified in two sister siblings with CF.
Predicted by SNAP2: A: D (71%), C: D (80%), D: D (91%), E: D (85%), F: D (85%), G: D (71%), H: D (85%), I: D (85%), K: D (85%), L: D (91%), M: D (85%), N: D (75%), P: D (91%), Q: D (80%), R: D (91%), T: D (53%), V: D (85%), W: D (85%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D,

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[hide] Van Goor F, Yu H, Burton B, Hoffman BJ
Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function.
J Cyst Fibros. 2014 Jan;13(1):29-36. doi: 10.1016/j.jcf.2013.06.008. Epub 2013 Jul 23., [PMID:23891399] [PubMed]

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[hide] Mornon JP, Hoffmann B, Jonic S, Lehn P, Callebaut I
Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics.
Cell Mol Life Sci. 2015 Apr;72(7):1377-403. doi: 10.1007/s00018-014-1749-2. Epub 2014 Oct 7., [PMID:25287046] [PubMed]

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[hide] Girardet A, Viart V, Plaza S, Daina G, De Rycke M, Des Georges M, Fiorentino F, Harton G, Ishmukhametova A, Navarro J, Raynal C, Renwick P, Saguet F, Schwarz M, SenGupta S, Tzetis M, Roux AF, Claustres M
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Eur J Hum Genet. 2015 May 27. doi: 10.1038/ejhg.2015.99., [PMID:26014425] [PubMed]

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[hide] Cui G, McCarty NA
Murine and human CFTR exhibit different sensitivities to CFTR potentiators.
Am J Physiol Lung Cell Mol Physiol. 2015 Oct 1;309(7):L687-99. doi: 10.1152/ajplung.00181.2015. Epub 2015 Jul 24., [PMID:26209275] [PubMed]

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