Mutation Details for c.715G>A
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cDNA Name
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c.715G>A
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Protein Name
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p.Gly239Arg
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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G239R
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Other Details
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This missense mutation in exon 6a of the CFTR gene was detected by heteroduplex-MDE analysis of DNA amplified by PCR with exon 6a specific primers (6ai-5, 5'-TTAGTGTGCTCAGAACCACG-3' and 6ai-3. 5'-CTATGCATAGAGCAGTCCTG-3'). Direct sequencing showed G to A transition at the nucleotidew position 847, which changes glycine to arginine at the amino acid position 239. The G239R allele was found once among 192 CF chromosomes screened for mutations in exon 6a. Mutation on the other chromosome of the pancreatic sufficient (PS) patient is unknown.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-12-20
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Institute
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Hospital For Sick Children
Toronto, Canada
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Submitted Phenotype Details
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One patient (female, 80), diagnosed at 65, PS, mild lung disease, sweat chloride 60mmol/l. Unknown other mutation (pers. corr. Bienvenu)
One 35 year-old female CF patient, PS, with mild pulmonary symptoms and sweat chloride 72 mmol/l, carrying an unknown mutation on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#60)
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