ABCC7 p.Val322Ala

ClinVar: c.964G>A , p.Val322Met ? , Uncertain significance
CF databases: c.965T>C , p.Val322Ala (CFTR1) ? , A novel allele was identified by DGGE and direct sequencing. As this nucleotide change was identified through a neonatal screening program we have no arguments to consider it as a polymorphism or a mutation
Predicted by SNAP2: A: D (80%), C: D (75%), D: D (95%), E: D (91%), F: D (75%), G: D (95%), H: D (95%), I: N (57%), K: D (95%), L: D (80%), M: N (66%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (85%), T: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: D, H: N, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, W: N, Y: N,

[switch to compact view]
Comments [show]
Publications
[hide] Scotet V, De Braekeleer M, Audrezet MP, Lode L, Verlingue C, Quere I, Mercier B, Dugueperoux I, Codet JP, Moineau MP, Parent P, Ferec C
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Clin Genet. 2001 Jan;59(1):42-7., [PMID:11168024]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ge N, Muise CN, Gong X, Linsdell P
Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.
J Biol Chem. 2004 Dec 31;279(53):55283-9. Epub 2004 Oct 25., 2004-12-31 [PMID:15504721]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Ferec C, Verlingue C, Parent P, Morin JF, Codet JP, Rault G, Dagorne M, Lemoigne A, Journel H, Roussey M, et al.
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses.
Hum Genet. 1995 Nov;96(5):542-8., [PMID:8530001]

Abstract [show]
Comments [show]
Sentences [show]