ABCC7 p.Leu206Arg

ClinVar: c.617T>G , p.Leu206Trp D , Pathogenic
c.618G>T , p.Leu206Phe ? , not provided
CF databases: c.617T>G , p.Leu206Trp D , CF-causing ; CFTR1: This mutation was identified in two unrelated CF patient from Southern France.
c.618G>T , p.Leu206Phe (CFTR1) ? , We would like to report a novel mutation we have identified by DGGE and direct sequencing.
Predicted by SNAP2: A: D (95%), C: D (91%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (91%), K: D (95%), M: D (91%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (85%), W: D (71%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: N,

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[hide] Clain J, Lehmann-Che J, Dugueperoux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Hum Mutat. 2005 Apr;25(4):360-71., [PMID:15776432]

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