ABCC7 p.Leu69His

CF databases: c.206T>G , p.Leu69Arg (CFTR1) ? , The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes.
Predicted by SNAP2: A: D (63%), C: N (53%), D: D (85%), E: D (80%), F: D (63%), G: D (80%), H: D (75%), I: N (57%), K: D (75%), M: N (53%), N: D (75%), P: D (85%), Q: D (71%), R: D (75%), S: D (71%), T: D (71%), V: N (61%), W: D (75%), Y: D (71%),
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] Sharma N, Singh M, Kaur G, Thapa BR, Prasad R
Identification and characterization of CFTR gene mutations in Indian CF patients.
Ann Hum Genet. 2009 Jan;73(1):26-33. Epub 2008 Sep 8., [PMID:18782298]

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[hide] Sharma N, Acharya N, Singh SK, Singh M, Sharma U, Prasad R
Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens.
Hum Reprod. 2009 May;24(5):1229-36. Epub 2009 Jan 30., [PMID:19181743]

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[hide] Prasad R, Sharma H, Kaur G
Molecular basis of cystic fibrosis disease: an Indian perspective.
Indian J Clin Biochem. 2010 Oct;25(4):335-41. Epub 2010 Nov 19., [PMID:21966101]

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[hide] Sharma H, Jollivet Souchet M, Callebaut I, Prasad R, Becq F
Function, pharmacological correction and maturation of new Indian CFTR gene mutations.
J Cyst Fibros. 2015 Jan;14(1):34-41. doi: 10.1016/j.jcf.2014.06.008. Epub 2014 Jul 16., [PMID:25042876]

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