ABCC7 p.Ala534Glu

ClinVar: c.1601C>A , p.Ala534Glu D , Pathogenic
CF databases: c.1601C>A , p.Ala534Glu (CFTR1) ? , A nucleotide change, C->A at position 1733, was detected by DGGE and direct sequencing leading to A534E in exon 11.
Predicted by SNAP2: C: N (78%), D: N (78%), E: N (82%), F: D (59%), G: N (66%), H: N (57%), I: N (57%), K: N (78%), L: D (53%), M: N (61%), N: N (57%), P: N (93%), Q: N (87%), R: D (53%), S: N (72%), T: N (66%), V: N (61%), W: D (66%), Y: D (53%),
Predicted by PROVEAN: C: N, D: N, E: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: D, Y: D,

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[hide] Muller F, Simon-Bouy B, Girodon E, Monnier N, Malinge MC, Serre JL
Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.
Am J Med Genet. 2002 Jun 15;110(2):109-15., 2002-06-15 [PMID:12116247]

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[hide] Lazaro C, de Cid R, Sunyer J, Soriano J, Gimenez J, Alvarez M, Casals T, Anto JM, Estivill X
Missense mutations in the cystic fibrosis gene in adult patients with asthma.
Hum Mutat. 1999;14(6):510-9., [PMID:10571949]

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[hide] Audrezet MP, Mercier B, Guillermit H, Quere I, Verlingue C, Rault G, Ferec C
Identification of 12 novel mutations in the CFTR gene.
Hum Mol Genet. 1993 Jan;2(1):51-4., [PMID:7683952]

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