ABCC7 p.Pro355Ala

CF databases: c.1063C>T , p.Pro355Ser (CFTR1) ? , The mutation was detected by DGGE analysis and characterised by direct sequencing. We have seen it only once, in over 2500 control chromosomes from Italian population.
Predicted by SNAP2: A: D (63%), C: D (63%), D: D (75%), E: D (75%), F: D (80%), G: D (71%), H: D (63%), I: D (75%), K: D (85%), L: D (80%), M: D (71%), N: D (71%), Q: D (59%), R: D (75%), S: D (63%), T: D (71%), V: D (75%), W: D (80%), Y: D (80%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Wei S, Roessler BC, Chauvet S, Guo J, Hartman JL 4th, Kirk KL
Conserved allosteric hot spots in the transmembrane domains of cystic fibrosis transmembrane conductance regulator (CFTR) channels and multidrug resistance protein (MRP) pumps.
J Biol Chem. 2014 Jul 18;289(29):19942-57. doi: 10.1074/jbc.M114.562116. Epub 2014 May 29., [PMID:24876383]

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