ABCC7 p.Leu102Arg

ClinVar: c.305T>C , p.Leu102Pro ? , not provided
CF databases: c.305T>C , p.Leu102Pro (CFTR1) ? , The L102P mutation was detected in the CFTR gene by DGGE and identified by direct sequencing. This mutation has been found in a child with severe CF. The other allele carries a R553X mutation.
c.305T>G , p.Leu102Arg (CFTR1) ? ,
Predicted by SNAP2: A: D (59%), C: N (53%), D: D (85%), E: D (80%), F: D (66%), G: D (80%), H: D (80%), I: N (82%), K: D (85%), M: N (57%), N: D (80%), P: D (85%), Q: D (71%), R: D (80%), S: D (66%), T: D (66%), V: N (61%), W: D (75%), Y: D (75%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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[hide] Enquist K, Fransson M, Boekel C, Bengtsson I, Geiger K, Lang L, Pettersson A, Johansson S, von Heijne G, Nilsson I
Membrane-integration characteristics of two ABC transporters, CFTR and P-glycoprotein.
J Mol Biol. 2009 Apr 17;387(5):1153-64. Epub 2009 Feb 21., [PMID:19236881]

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