ABCC7 p.Asp979Glu

ClinVar: c.2936A>T , p.Asp979Val ? , not provided
c.2936A>C , p.Asp979Ala ? , not provided
CF databases: c.2936A>T , p.Asp979Val (CFTR1) D , The above mutation was detected by DGGE and direct sequencing, and was observed in a French family with 2 CF patients carrying [delta]F508 on their other CF chromosomes.
c.2936A>C , p.Asp979Ala (CFTR1) D , D979A was found in a Vietnamese CBAVD patient carrying a yet unknown mutation on the other allele.
Predicted by SNAP2: A: D (85%), C: D (85%), E: D (80%), F: D (91%), G: D (91%), H: D (91%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (85%), P: D (91%), Q: D (85%), R: D (91%), S: D (85%), T: D (85%), V: D (91%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Clain J, Fritsch J, Lehmann-Che J, Bali M, Arous N, Goossens M, Edelman A, Fanen P
Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function.
J Biol Chem. 2001 Mar 23;276(12):9045-9. Epub 2000 Dec 15., 2001-03-23 [PMID:11118444]

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