Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3705T>G

cDNA Name	c.3705T>G
Protein Name	p.Ser1235Arg
Exon or Intron	exon 22
Legacy Exon or Intron	exon 19
Legacy Name	S1235R
Other Details	The S1235R mutation (T->G at nucleotide position 3837) in exon 19 was found in 2 out of 34 unrelated Belgian CF chromosomes (7 [delta]F508 and 27 non-[delta] CF chromosomes.
Contributors	Cassiman JJ, Cuppens H, Marynen P 1992-03-04
Institute	Center for Human Genetics Leuven, Belgium
Phenotype Information	CFTR2
Reference	Cuppens 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.

Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results. 2000 012;118(6):1591-7

Monaghan KG, Feldman GL, Barbarotto GM, Manji S, Desai TK, Snow K Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study. 2000 012 11;95(4):361-5

Wei L, Vankeerberghen A, Jaspers M, Cassiman J, Nilius B, Cuppens H Suppressive interactions between mutations located in the two nucleotide binding domains of CFTR. 2000 005 12;473(2):149-53

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The Database was last updated at Apr 25, 2011