ABCC7 p.Asp44Val

ClinVar: c.131A>G , p.Asp44Gly ? , not provided
CF databases: c.131A>G , p.Asp44Gly (CFTR1) D , This mutation was found once among 31 [delta]F508, 63 Cf non-[delta]F508 and 37 normal chromosomes analyzed.
Predicted by SNAP2: A: D (91%), C: D (91%), E: D (95%), F: D (95%), G: D (59%), H: D (91%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (85%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (85%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, E: N, 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] George Priya Doss C, Rajasekaran R, Sudandiradoss C, Ramanathan K, Purohit R, Sethumadhavan R
A novel computational and structural analysis of nsSNPs in CFTR gene.
Genomic Med. 2008 Jan;2(1-2):23-32. Epub 2008 May 14., [PMID:18716917]

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[hide] Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Genomics. 1992 Jul;13(3):770-6., [PMID:1379210]

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