ABCC7 p.Met348Glu

ClinVar: c.1043T>A , p.Met348Lys ? , not provided
CF databases: c.1042A>G , p.Met348Val (CFTR1) ? , This mutation was identified in a CFTR gene mutation screening of 60 Patients with idiopathic chronic pancreatitis recruited from the region of North Rhine Westfalia in Germany. The entire coding region of the CFTR gene was sequenced.
c.1043T>A , p.Met348Lys (CFTR1) ? , The mutation on the other chromosome is still unknown. This mutation was found on one chromosome while screening 56 Italian CF chromosomes.
c.1043T>C , p.Met348Thr (CFTR1) ? , The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only twice, in over 1800 control chromosomes from Italian population.
Predicted by SNAP2: A: D (71%), C: D (66%), D: D (85%), E: D (85%), F: D (63%), G: D (80%), H: D (80%), I: N (53%), K: D (85%), L: N (66%), N: D (71%), P: D (91%), Q: D (63%), R: D (85%), S: D (66%), T: D (75%), V: N (53%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: N, Y: N,

[switch to compact view]
Comments [show]
Publications
[hide] Sorum B, Czege D, Csanady L
Timing of CFTR Pore Opening and Structure of Its Transition State.
Cell. 2015 Oct 22;163(3):724-33. doi: 10.1016/j.cell.2015.09.052. Epub 2015 Oct 22., [PMID:26496611]

Abstract [show]
Comments [show]
Sentences [show]