Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.2834C>T

cDNA Name	c.2834C>T
Protein Name	p.Ser945Leu
Exon or Intron	exon 17
Legacy Exon or Intron	exon 15
Legacy Name	S945L
Other Details	This mutation was detected by SSCP analysis then identified by sequencing. The nucleotide change is a C->T at position 2966 and destroys a TaqI restriction site.
Contributors	Claustres M, Desgeorges M, Kjellberg P 1992-05-14
Institute	Laboratoire de Biochimie Genetique Montpellier, France
Phenotype Information	CFTR2
Reference	Claustres et al. 1993

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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.

Friedman KJ, Heim RA, Knowles MR, Silverman LM Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease. 1997;10(2):108-15

Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Riordan JR, Clarke DM Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity. 1996 011 1;271(44):27493-9

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The Database was last updated at Apr 25, 2011