Mutation Details for c.532G>A

cDNA Name c.532G>A 
Protein Name p.Gly178Arg 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name G178R 
Other Details The mutation was found on the mother's CF chromosome in family #50; the other mutation in this family is [delta]F508. We have not found another example so far after screening 61 CF chromosomes (including 1 from group 4 and 2 other from group 5) and 54 N chromosomes (including 4 group 4 and 5 group 5). To detect this mutation, genomic DNA may be amplified by PCR with primers 515' and 513'. 
Contributors Zielenski J, Bozon D, Kerem B, Tsui LC   1990-06-18
Institute The Hospital for Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Zielenski et al. 1991b 

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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.

  • Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M   Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.   1992;1(4):314-9
  • Seibert FS, Jia Y, Mathews CJ, Hanrahan JW, Riordan JR, Loo TW, Clarke DM   Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.   1997 009 30;36(39):11966-74
  • Tang NL, Hui J, Law LK, Lam YY, Chan KY, Yeung WL, Chan AY, Cheung KL, Fok TF   Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.   2000 011;16(5):446
  • Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC   Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1991 005;10(1):229-35

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The Database was last updated at Apr 25, 2011