Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1545_1546delTA

cDNA Name	c.1545_1546delTA
Protein Name	p.Tyr515X
Exon or Intron	exon 11
Legacy Exon or Intron	exon 10
Legacy Name	1677delTA
Other Details	This mutation has been identified in 3 families with high risk of CF, all from small ethnic group of Georgia.
Contributors	Baranov V 1991-05-10
Institute	Institute of Obstetrics & Gynaecology Lenigrad, Russia
Phenotype Information	CFTR2
Reference	Ivaschenko et al. 1991; Angelicheva et al. 1994

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Angelicheva D, Boteva K, Jordanova A, Savov A, Kufardjieva A, Tolun A, Telatar M, Akarsubasi A, Koprubasi F, Aydogdu S, et al Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation. 1994;3(4):353-7

Baranov VS, Gorbunova VN, Ivaschenko TE, Shwed NYu , Osinovskaya NS, Kascheeva TK, Lebedev VM, Mikhailov AV, Vakharlovsky VG, Kuznetzova TV Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R. 1992 007;12(7):575-86

Boteva K, Papageorgiou E, Georgiou C, Angastiniotis M, Middleton LT, Constantinou-Deltas CD Novel cystic fibrosis mutation associated with mild disease in Cypriot patients. 1994 005;93(5):529-32

Deltas CC, Boteva K, Georgiou A, Papageorgiou E, Georgiou C Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual. 1996 008;10(4):315-8

Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 1997;10(2):135-54

Koprubasi FF, Malik N, Bosch-al-Jadooa N, Alkan M, Tanac R, Buhler E Molecular genetic analysis of Turkish cystic fibrosis patients. 1993;36(3):144-9

Livshits LA, Kravchenko SA Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation. 1996 012;10(3):219-27

Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui LC, Kirdar B Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). 1998 002;102(2):224-30

Yilmaz E, Erdem H, Ozguc M, Coskun T, Ozcelik U, Gocmen A, Ozalp I Study of 12 mutations in Turkish cystic fibrosis patients. 1995 005-006;45(3):175-7

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The Database was last updated at Apr 25, 2011