ABCC7 p.Tyr161Asn

ClinVar: c.481T>G , p.Tyr161Asp ? , not provided
c.482A>G , p.Tyr161Cys ? , not provided
c.482A>C , p.Tyr161Ser ? , not provided
c.481T>A , p.Tyr161Asn ? , not provided
CF databases: c.481T>A , p.Tyr161Asn (CFTR1) ? , This putative mutation was detected by DGGE and identified by DNA fluorescent sequencing in an young patient from Southern France suffering from isolated nasal polyposis. He carries the G85E mutation on the other chromosome.
c.481T>G , p.Tyr161Asp (CFTR1) ? , The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Swedish patient with atypical CF (second mutationL unknown).
c.482A>C , p.Tyr161Ser (CFTR1) ? , This mutation was seen in a 6 year-old CF patient whose other CF mutation is [delta]F508. The mutation and polymorphism are on the same chromosome (established in the mother). We do not yet have any clinical information. The patient was referred by S.W. Thames Regional Genetics Service. We have seen this mutation and polymorphism only once in over 100 CF chromosomes screened.
Predicted by SNAP2: A: D (85%), C: D (80%), D: D (95%), E: D (95%), F: N (61%), G: D (91%), H: D (85%), I: D (85%), K: D (95%), L: D (85%), M: D (91%), N: D (91%), P: D (95%), Q: D (91%), R: D (95%), S: D (91%), T: D (91%), V: D (85%), W: D (85%),
Predicted by PROVEAN: A: D, C: D, D: 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,

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[hide] des Georges M, Guittard C, Altieri JP, Templin C, Sarles J, Sarda P, Claustres M
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
J Cyst Fibros. 2004 Dec;3(4):265-72., [PMID:15698946] [PubMed]

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