ABCMdb

ABCC7 p.Trp1282Lys

ClinVar:	c.3844T>G , p.Trp1282Gly ? , not provided c.3846G>A , p.Trp1282* D , Pathogenic c.3844T>C , p.Trp1282Arg ? , not provided
CF databases:	c.3846G>A , p.Trp1282* D , CF-causing c.3844T>G , p.Trp1282Gly (CFTR1) D , The mutation W1282G was detected by DGGE and direct sequencing in a patient from Brazil (Caucasian origin), she carries [delta]F508 on the other chromosome and he presents PI and mild lung disease. c.3844T>C , p.Trp1282Arg (CFTR1) ? , In exon 20 we have found one Russian patient with the mutation T3976C. This mutation creates an AciI site. This enzyme also cuts DNA with the A4002G polymorphism. The two can be distinguished based on the size of the products. c.3846G>T , p.Trp1282Cys (CFTR1) ? , Found by DGGE and DNA sequencing. (CF patient, genotype [delta]F508/W1282C)
Predicted by SNAP2:	A: D (85%), C: D (85%), D: D (95%), E: D (95%), F: D (80%), G: D (95%), H: D (95%), I: D (80%), K: D (95%), L: D (71%), M: D (85%), N: D (95%), P: D (95%), Q: D (95%), R: D (75%), S: D (95%), T: D (95%), V: D (80%), Y: D (85%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, Y: N,

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Publications
[hide] Mutational spectrum of cystic fibrosis in the Leba... J Cyst Fibros. 2010 Dec;9(6):406-10. Epub 2010 Aug 25. Farra C, Menassa R, Awwad J, Morel Y, Salameh P, Yazbeck N, Majdalani M, Wakim R, Yunis K, Mroueh S, Cabet F
Mutational spectrum of cystic fibrosis in the Lebanese population.
J Cyst Fibros. 2010 Dec;9(6):406-10. Epub 2010 Aug 25., [PMID:20797923]

Abstract [show]
BACKGROUND: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians; it is however, considered to be rare in the Arab populations. Reports of the cystic fibrosis transmembrane regulator (CFTR) mutations from Arabs, especially from the Lebanese population, are limited. METHODS: Twenty-two unrelated Lebanese families, with at least one child with CF, were studied. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations. RESULTS: Eleven different mutations were identified. Of the 44 alleles studied, the most common mutations were: F508del (34%), N1303K (27%), W1282X (7%), and S4X (7%). Five mutations - not previously reported in the Lebanese population - were identified; these are: S549N, G542X, 2043delG, 4016insG, and R117H-7T. CONCLUSIONS: The most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified. Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling.

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Sentences [show]
No. Sentence Comment
68 In the Palestinian population, although F508del, N1303K, and W1282K were commonly reported; however, the third most common mutation in this population, 3120+1Kbdel8.6Kb, was not observed in the Lebanese population [17]. Login to comment
70 In Israel, the most common mutations reported were also F508del, W1282K, and N1303K, with W1282X being the most common (31.3%-36.2%) [21,30]. Login to comment