ABCC7 p.Val11Ile

Predicted by SNAP2: A: N (78%), C: N (82%), D: D (75%), E: D (66%), F: N (87%), G: D (71%), H: D (71%), I: N (93%), K: D (63%), L: N (93%), M: N (87%), N: D (66%), P: D (53%), Q: D (66%), R: D (75%), S: N (61%), T: N (66%), W: D (71%), Y: N (61%),
Predicted by PROVEAN: A: N, C: N, D: D, E: N, F: N, G: D, H: N, I: N, K: N, L: N, M: N, N: D, P: D, Q: N, R: D, S: N, T: N, W: N, Y: N,

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[hide] Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis E
CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.
Hum Genet. 2001 Mar;108(3):216-21., [PMID:11354633]

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[hide] Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CL, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diagn. 2005 May;7(2):289-99., [PMID:15858154]

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