ABCC7 p.Ser341Glu

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] McCarty NA, Zhang ZR
Identification of a region of strong discrimination in the pore of CFTR.
Am J Physiol Lung Cell Mol Physiol. 2001 Oct;281(4):L852-67., [PMID:11557589]

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[hide] Zhang ZR, Zeltwanger S, Smith SS, Dawson DC, McCarty NA
Voltage-sensitive gating induced by a mutation in the fifth transmembrane domain of CFTR.
Am J Physiol Lung Cell Mol Physiol. 2002 Jan;282(1):L135-45., [PMID:11741825]

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