ABCC7 p.Leu137Pro

ClinVar: c.410T>G , p.Leu137Arg ? , not provided
c.410T>A , p.Leu137His ? , not provided
CF databases: c.410T>A , p.Leu137His (CFTR1) D , The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It was not previously observed in over 100 non-[delta]F508 CF chromosomes. L137H was observed in an adult male presenting only with male infertility due to CBAVD. This sample was referred from the Leeds DNA lab by Lucy Ellis. His other mutation is [delta]F508.
c.410T>G , p.Leu137Arg (CFTR1) ? , This French CF patient has [delta]F508 on the other CF chromosome. This substitution creates a Cfo I site.
Predicted by SNAP2: A: D (63%), C: D (53%), D: D (91%), E: D (85%), F: N (57%), G: D (91%), H: D (85%), I: D (59%), K: D (91%), M: N (66%), N: D (85%), P: D (91%), Q: D (80%), R: D (91%), S: D (80%), T: D (80%), V: N (61%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, 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: N,

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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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