ABCC7 p.Gln1238Arg

ClinVar: c.3713A>G , p.Gln1238Arg ? , not provided
c.3712C>T , p.Gln1238* D , Pathogenic
CF databases: c.3713A>G , p.Gln1238Arg (CFTR1) ? , This mutation was identified by DGGE and direct sequencing. The nucleotide change A->G at position 3845 leads to Q1238R in exon 19. This mutation creates a MspI restriction site.
Predicted by SNAP2: A: D (59%), C: N (61%), D: N (57%), E: N (93%), F: D (66%), G: D (66%), H: N (57%), I: D (63%), K: D (59%), L: N (66%), M: D (53%), N: D (59%), P: D (75%), R: D (66%), S: N (57%), T: N (53%), V: D (53%), W: N (57%), Y: D (63%),
Predicted by PROVEAN: A: D, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: D, N: N, P: D, R: N, S: N, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Conseil G, Deeley RG, Cole SP
Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.
Pharmacogenet Genomics. 2005 Aug;15(8):523-33., [PMID:16006996]

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

[hide] Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Hum Mutat. 2000;16(2):143-56., [PMID:10923036]

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

[hide] Molinski SV, Gonska T, Huan LJ, Baskin B, Janahi IA, Ray PN, Bear CE
Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.
Genet Med. 2014 Aug;16(8):625-32. doi: 10.1038/gim.2014.4. Epub 2014 Feb 20., [PMID:24556927]

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