ABCC7 p.Leu137His

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] Dorfman R, Nalpathamkalam T, Taylor C, Gonska T, Keenan K, Yuan XW, Corey M, Tsui LC, Zielenski J, Durie P
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Clin Genet. 2010 May;77(5):464-73. Epub 2009 Jan 6., [PMID:20059485]

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[hide] Ellis LA, Taylor CF, Taylor GR
A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutation scanning.
Hum Mutat. 2000;15(6):556-64., [PMID:10862085]

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