ABCC7 p.Ile506Leu

ClinVar: c.1518C>G , p.Ile506Met ? , not provided
c.1517T>C , p.Ile506Thr ? , not provided
c.1516A>C , p.Ile506Leu ? , not provided
c.1516A>G , p.Ile506Val N , Benign
c.1517T>G , p.Ile506Ser ? , not provided
CF databases: c.1516A>C , p.Ile506Leu (CFTR1) D , The mutation was found in one Swedish CF patient by multiplex heteroduplex analysis on an MDE gel. The patient carried [delta]F508 on the other allele; the patient had sweat chloride of 103 meq/l, pancreatic sufficient, and mild lung disease.
c.1517T>C , p.Ile506Thr (CFTR1) ? , The whole coding and flanking sequence has been screened by DGGE, and no other alteration could be found except known polymorphisms. This second mutation at codon 506 ( the first, 1506S, was described by Deufel) was thoroughly checked by two different sequences from different PCR products.
c.1517T>G , p.Ile506Ser (CFTR1) ? , Allele specific amplification and PAA electrophoresis of exon 10 fragments had given discrepant results. By direct sequencing, we found a T to G transversion at nucleotide position 1649, exchanging a isoleucine for a serine (I506S). The second mutation is [delta]F508. The heteroduplex I506S/[delta]F508 can be distinguished from wt/[delta]F508 duplices, allowing for rapid screening of the mutation.
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), K: D (95%), L: D (85%), M: D (66%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: N (87%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, K: D, L: N, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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[hide] Strandvik B, Bjorck E, Fallstrom M, Gronowitz E, Thountzouris J, Lindblad A, Markiewicz D, Wahlstrom J, Tsui LC, Zielenski J
Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.
Genet Test. 2001 Fall;5(3):235-42., [PMID:11788090] [PubMed]

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[hide] Schaedel C, de Monestrol I, Hjelte L, Johannesson M, Kornfalt R, Lindblad A, Strandvik B, Wahlgren L, Holmberg L
Predictors of deterioration of lung function in cystic fibrosis.
Pediatr Pulmonol. 2002 Jun;33(6):483-91., [PMID:12001283] [PubMed]

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[hide] Gronowitz E, Pitkanen S, Kjellmer I, Heikinheimo M, Strandvik B
Association between serum oncofetal antigens CA 19-9 and CA 125 and clinical status in patients with cystic fibrosis.
Acta Paediatr. 2003 Nov;92(11):1267-71., [PMID:14696845] [PubMed]

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[hide] Munthe-Kaas MC, Lodrup Carlsen KC, Carlsen KH, Skinningsrud B, Haland G, Devulapalli CS, Pettersen M, Eiklid K
CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study.
Respir Med. 2006 Dec;100(12):2121-8. Epub 2006 May 5., [PMID:16678395] [PubMed]

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