ABCC7 p.Pro499Ala

ClinVar: c.1495C>G , p.Pro499Ala ? , not provided
CF databases: c.1495C>G , p.Pro499Ala (CFTR1) D , The above mutation was detected by SSCP analysis and identified by direct sequencing. It was found on the paternal chromosome in a CBAVD patient, with his maternal chromosome carrying W1282X. The mutation removes a BstNI site.
Predicted by SNAP2: A: D (59%), C: D (75%), D: D (91%), E: D (91%), F: D (91%), G: D (85%), H: D (85%), I: D (85%), K: D (91%), L: D (91%), M: D (85%), N: D (91%), Q: D (85%), R: D (91%), S: D (53%), T: D (63%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Jarzabek K, Zbucka M, Pepinski W, Szamatowicz J, Domitrz J, Janica J, Wolczynski S, Szamatowicz M
Cystic fibrosis as a cause of infertility.
Reprod Biol. 2004 Jul;4(2):119-29., [PMID:15297887]

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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] Arduino C, Ferrone M, Brusco A, Garnerone S, Fontana D, Rolle L, Carbonara AO
Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene.
Clin Genet. 1998 Mar;53(3):202-4., [PMID:9630075]

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