Mutation Details for c.293A>G

cDNA Name c.293A>G 
Protein Name p.Gln98Arg 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Q98R 
Other Details This mutation was found in one CF patient from Southern France, who carries [delta]F508 on the other gene. It creates a HaeIII restriction site (N : 290 +78 +70 bp), (m: 153 + 137 + 78 + 70 bp) when using the primers 4i5/4i3 from Zielinski. Also reported by Yoshimura & Azuma on 4/01/1000: This mutation was detected in one of the CFTR alleles of a 15-year old Japanese male patient with cystic fibrosis. He is pancreatic insufficient, has CBAVD, and his sweat chloride was high (74 mmol/L). Another mutation was not found despite the thorough evaluation for his entire 27 exons of the CFTR gene. Interestingly, he was heterozygous at the cDNA 125 in 5'UTR (i.e., 125G/125C), and this is the only difference from his healthy sister who is also heterozygous for Q98R mutation, but 125G/125G, suggesting that 125C may be disease-causing.  
Contributors Claustres M, Romey M-C, Desgeorges M   1994-04-21
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details Romey et all 1995 - Patient (M) is 19y, has PS, moderate lung disease, high (120mmol/l) sweat-chloride, pneumonia, bronchiectasis, nasal polyps and PA&Staph. colonisation. DeltaF508 was found on other allele. Romey contr. to CFMD - Patient (M) is 15, has PI, CBAVD and high (74mmol/l) sweat-chloride. 125G/125C was also present. Romey contr. to CFMD - Healthy sister of previous patient. Only difference 125G/125G. Wine et all 2001 - patient with unknown other mutation, PS and positive sweat chloride 
Reference Romey et al. 1995 

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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.

  • Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M   Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.   1995;6(2):190-1

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The Database was last updated at Apr 25, 2011