Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.613C>T

cDNA Name	c.613C>T
Protein Name	p.Pro205Ser
Exon or Intron	exon 6
Legacy Exon or Intron	exon 6a
Legacy Name	P205S
Other Details	This mutation was detected by SSCP analysism followed by direct sequencing. Mutation P205S was found in 3/270 unrelated Spanish CF non-[delta]F508 chromosomes. P205S is associated with haplotype 16/44/13.
Contributors	Chillon M, Nunes V, Gimenez J, Casals T, Estivill X 1992-12-03
Institute	Institut de Recerca Oncologica Barcelona, Spain
Phenotype Information	CFTR2
Reference	Chillón et al. 1993b

To check if there are any papers published about this mutation/variant on PubMed, please click here.

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.

Chillon M, Casals T, Nunes V, Gimenez J, Perez Ruiz E, Estivill X Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. 1993 010;2(10):1741-2

Sheppard DN, Travis SM, Ishihara H, Welsh MJ Contribution of proline residues in the membrane-spanning domains of cystic fibrosis transmembrane conductance regulator to chloride channel function. 1996 006 21;271(25):14995-5001

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011