Mutation Details for c.3592delG
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cDNA Name
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c.3592delG
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Protein Name
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p.Val1198X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3724delG
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Other Details
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This mutation was detected by DGGE using chemical clamps and consists of a G deletion at nucleotide 3724 (3724delG). This frameshift generates a stop codon (TGA) immediately 3' to the deletion. This mutation destroys a AfIIII site and a MaeII site. In this case, the loss of MaeII site was confirmed on PCR product. This patient carries an yet unknown mutation on the other CF chromosome. 3724delG was not found in 149 others non-[delta]F508 CF chromosomes from France.
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Contributors
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Bienvenu T,
Fonknechten N,
Desclaux-Arramond F,
Kaplan JC,
Beldjord C
1993-03-31
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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The mutation was found in a 2 year old male CF patient diagnosed at birth by routine trypsinogen testing. He is PI, has sweat chloride 85 mmol/l and mild respiratory symptoms with Pseudomonas Aeruginosa infection. He carries deltaF508 on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. 1994b
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