Mutation Details for c.3713A>G
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cDNA Name
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c.3713A>G
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Protein Name
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p.Gln1238Arg
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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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Q1238R
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Other Details
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This mutation was identified by DGGE and direct sequencing. The nucleotide change A->G at position 3845 leads to Q1238R in exon 19. This mutation creates a MspI restriction site.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MO,
Raguenes O,
Guillermit H,
Mercier B
1993-08-18
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a French CF patient diagnosed in utero, carrying deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Férec C et al. (NL#58)
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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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