ABCC7 p.Glu217Cys

ClinVar: c.650A>G , p.Glu217Gly D , Pathogenic
CF databases: c.650A>G , p.Glu217Gly (CFTR1) ? , The mutation was detected by heteroduplex analysis in a 2-year old male Polish patient with high sweat cloride (60-80 meq/l), pancreatic sufficiency, and moderate lung disease. His other CF mutation is unknown. It was also found by Yoshimura in 1999, in the CFTR alleles of a single patient with diffuse panbronchiolitis who has Q1352 H in the other allele.
Predicted by SNAP2: A: N (66%), C: D (59%), D: N (93%), F: D (80%), G: N (66%), H: N (53%), I: D (59%), K: N (72%), L: D (59%), M: D (53%), N: N (82%), P: D (59%), Q: N (66%), R: D (66%), S: N (66%), T: N (66%), V: D (53%), W: D (85%), Y: D (75%),
Predicted by PROVEAN: A: N, C: D, D: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Rahman KS, Cui G, Harvey SC, McCarty NA
Modeling the conformational changes underlying channel opening in CFTR.
PLoS One. 2013 Sep 27;8(9):e74574. doi: 10.1371/journal.pone.0074574. eCollection 2013., [PMID:24086355]

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[hide] Cui G, Rahman KS, Infield DT, Kuang C, Prince CZ, McCarty NA
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
J Gen Physiol. 2014 Aug;144(2):159-79. doi: 10.1085/jgp.201311122. Epub 2014 Jul 14., [PMID:25024266]

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