Mutation Details for c.2009_2010insA
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cDNA Name
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c.2009_2010insA
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Protein Name
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p.Leu671IlefsX18
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2141insA
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Other Details
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A frameshift mutation 2142insA was detected in a French CF patient. The patient is pancreatic insufficient and carries [delta]F508 on the other chromosome. 2141insA was not found on further 50-[delta]F508 CF chromosomes. This mutation is predicted to shift the reading frame of the protein and introduce a terminator codon (UAA) at amino acid position 688.
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Contributors
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Bienvenu T,
Cazaneuve C,
Kaplan JC,
Beldjord C
1993-01-31
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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 CF patient who carries deltaF508 on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#61)
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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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