ABCC7 p.Lys68Asn

ClinVar: c.204A>T , p.Lys68Asn ? , not provided
c.202A>G , p.Lys68Glu ? , not provided
CF databases: c.202A>G , p.Lys68Glu (CFTR1) ? , This mutation was found in a male Turkish patient (first reported Aug 4, 1997). His sweat chloride was 60 meq/l and showed lung disease at age of 26 months. His other CF mutation was later reported to be 406+3T->C (on March 23, 1998).
c.204A>T , p.Lys68Asn (CFTR1) ? , This mutation was detected in a single Turkish CF patient of Syrian origin. The second mutation is yet unknown. The mutation segregates with haplotype C.
Predicted by SNAP2: A: D (66%), C: D (75%), D: D (91%), E: D (80%), F: D (85%), G: D (85%), H: D (53%), I: D (80%), L: D (66%), M: D (75%), N: D (63%), P: D (85%), Q: D (53%), R: N (66%), S: N (61%), T: D (63%), V: D (80%), W: D (91%), Y: D (85%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: N, H: D, I: D, L: D, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: D, W: D, Y: D,

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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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[hide] Kilinc MO, Ninis VN, Dagli E, Demirkol M, Ozkinay F, Arikan Z, Cogulu O, Huner G, Karakoc F, Tolun A
Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.
Am J Med Genet. 2002 Dec 1;113(3):250-7., 2002-12-01 [PMID:12439892]

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[hide] Gaia E, Salacone P, Gallo M, Promis GG, Brusco A, Bancone C, Carlo A
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
Dig Dis Sci. 2002 Nov;47(11):2416-21., [PMID:12452372]

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[hide] Handschick M, Hedtfeld S, Tummler B
Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation.
J Cyst Fibros. 2012 Jan;11(1):53-5. Epub 2011 Sep 13., [PMID:21917531]

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[hide] Lee S, Henderson MJ, Schiffhauer E, Despanie J, Henry K, Kang PW, Walker D, McClure ML, Wilson L, Sorscher EJ, Zeitlin PL
Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.
Mol Cell Biol. 2014 Jul;34(14):2554-65., [PMID:24777605]

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