ABCC7 p.Tyr122Lys

ClinVar: c.366T>A , p.Tyr122* D , Pathogenic
c.364T>C , p.Tyr122His ? , not provided
CF databases: c.366T>A , p.Tyr122* D , CF-causing
c.364T>C , p.Tyr122His (CFTR1) ? , This mutation was identified on CFTR gene in one Iranian CBAVD patient.
c.365A>G , p.Tyr122Cys (CFTR1) ? , The mutation was detected by dHPLC analysis and characterised by direct sequencing. We have seen it only once, in over 2000 control chromosomes from Italian population.
Predicted by SNAP2: A: D (59%), C: N (53%), D: D (80%), E: D (75%), F: N (72%), G: D (66%), H: D (53%), I: N (53%), K: D (75%), L: N (53%), M: D (53%), N: D (71%), P: D (85%), Q: D (66%), R: D (75%), S: D (66%), T: D (66%), V: N (53%), W: D (53%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: N, G: D, H: N, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: N,

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[hide] Bobadilla JL, Macek M Jr, Fine JP, Farrell PM
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Hum Mutat. 2002 Jun;19(6):575-606., [PMID:12007216]

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