Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.1841A>G

cDNA Name	c.1841A>G
Protein Name	p.Asp614Gly
Exon or Intron	exon 14
Legacy Exon or Intron	exon 13
Legacy Name	D614G
Other Details	This mutation, found in exon 13 of a CF patient from Italian origin, was observed once while screening 56 Italian CF chromosomes. The mutated sequence was detected using DGGE and DNA sequencing.
Contributors	Mecier B, Audrezet MP, Ferec C, Novelli G, Dallapicolla B 1992-04-10
Institute	Centre Departemental de Transfusion Sanguine Brest, France
Phenotype Information	CFTR2
Reference	Audrézet 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.

Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C, Dallapiccola B Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 1993 009-010;43(5):295-300

Pasyk EA, Morin XK, Zeman P, Garami E, Galley K, Huan LJ, Wang Y, Bear CE A conserved region of the R domain of cystic fibrosis transmembrane conductance regulator is important in processing and function. 1998 011 27;273(48):31759-64

Vankeerberghen A, Wei L, Jaspers M, Cassiman JJ, Nilius B, Cuppens H Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 1998 010;7(11):1761-9

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