ABCC7 p.Gln237Glu

ClinVar: c.709C>G , p.Gln237Glu ? , not provided
c.711G>C , p.Gln237His ? , not provided
CF databases: c.709C>G , p.Gln237Glu (CFTR1) ? , The substitution was founf in an adult patient presenting with chronic pulmonary infections and a positive sweat chloride test.
c.711G>C , p.Gln237His (CFTR1) ? ,
Predicted by SNAP2: A: D (71%), C: D (66%), D: D (80%), E: D (71%), F: D (80%), G: D (75%), H: D (75%), I: D (75%), K: D (85%), L: D (80%), M: D (71%), N: D (66%), P: D (85%), R: D (66%), S: D (66%), T: D (66%), V: D (71%), W: D (85%), Y: D (75%),
Predicted by PROVEAN: A: D, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: D, R: N, S: N, T: N, V: D, W: D, Y: D,

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[hide] Girardet A, Guittard C, Altieri JP, Templin C, Stremler N, Beroud C, des Georges M, Claustres M
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Clin Genet. 2007 Oct;72(4):374-7., [PMID:17850636]

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[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]

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