Mutation Details for c.227_228insT
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cDNA Name
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c.227_228insT
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Protein Name
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p.Trp79LeufsX32
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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359insT
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Other Details
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This frameshift mutation was found in a CF patient from Southern France in Exon 3 : it is an insertion of one T between 359 and 365. This mutation was detected by DGDE, and both strands have been sequenced.
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Contributors
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Claustres M,
Desgeorges M,
Romey M-C
1994-07-28
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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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359insT was found in a5y male patient carrying deltaF508 on the other allele. He was diagnosed at 7m, is PI, had no pulmonary symptoms at 5y and has positive sweat chloride. He had meconium ileus. (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#63)
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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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