ABCC7 p.His484Arg

ClinVar: c.1450C>T , p.His484Tyr ? , not provided
CF databases: c.1450C>T , p.His484Tyr (CFTR1) ? , The H484Y mutation was detected by SSCA and direct sequencing. The patient is a Spanish man with CBAVD.
c.1451A>G , p.His484Arg (CFTR1) ? , Neonatal screening asymtomatic child at the present time.
Predicted by SNAP2: A: D (53%), C: D (53%), D: D (85%), E: D (66%), F: D (59%), G: D (80%), I: N (53%), K: D (66%), L: N (61%), M: N (53%), N: D (71%), P: D (75%), Q: N (53%), R: D (59%), S: D (53%), T: D (53%), V: N (66%), W: D (85%), Y: D (75%),
Predicted by PROVEAN: A: N, C: N, D: D, E: N, F: N, G: D, I: N, K: N, L: N, M: N, N: N, P: D, Q: N, R: N, S: N, T: N, V: N, W: D, Y: N,

[switch to compact view]
Comments [show]
Publications
[hide] Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Hum Genet. 2001 Apr;108(4):290-8., [PMID:11379874]

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

[hide] Eudes R, Lehn P, Ferec C, Mornon JP, Callebaut I
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Cell Mol Life Sci. 2005 Sep;62(18):2112-23., [PMID:16132229]

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