Mutation Details for c.293A>G
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cDNA Name
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c.293A>G
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Protein Name
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p.Gln98Arg
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Q98R
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Other Details
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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.
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Contributors
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Claustres M,
Romey M-C,
Desgeorges M
1994-04-21
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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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
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Reference
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Romey et al. 1995
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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