ABCC7 p.Lys978Gln

ClinVar: c.2932A>T , p.Lys978* D , Likely pathogenic
Predicted by SNAP2: A: D (71%), C: D (75%), D: D (91%), E: D (85%), F: D (85%), G: D (80%), H: D (71%), I: D (75%), L: D (80%), M: D (63%), N: D (71%), P: D (91%), Q: D (75%), R: D (66%), S: D (66%), T: D (75%), V: D (80%), W: D (91%), Y: D (80%),
Predicted by PROVEAN: A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, L: D, M: D, N: N, P: D, Q: N, R: N, S: N, T: D, V: D, W: D, Y: D,

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[hide] Li MS, Holstead RG, Wang W, Linsdell P
Regulation of CFTR chloride channel macroscopic conductance by extracellular bicarbonate.
Am J Physiol Cell Physiol. 2011 Jan;300(1):C65-74. Epub 2010 Oct 6., [PMID:20926782]

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[hide] Melin P, Hosy E, Vivaudou M, Becq F
CFTR inhibition by glibenclamide requires a positive charge in cytoplasmic loop three.
Biochim Biophys Acta. 2007 Oct;1768(10):2438-46. Epub 2007 May 21., [PMID:17582383]

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