Mutation Details for c.3890_3891insT
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cDNA Name
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c.3890_3891insT
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Protein Name
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p.Gly1298TrpfsX4
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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4022insT
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Other Details
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The change is an insertion of a timine at position 4022 in exon 21. The insertion introduces a termination codon (TAG) at amino acid position 1301. The mutation was detected by DHPLC and both strands have been sequenced.
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Contributors
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Neri T.M, Sebastio P, Grzincihch G.
2004-10-12
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Institute
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Laboratorio di Genetica Molecolare e Biotecnologie Diagnostiche, Parma Italy.
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Submitted Phenotype Details
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4022insT was found in 29 y female patient carrying W1282G on the other allele. She had pulmonary and intestinal disease with sweat chloride of 142-152 mEq of Na.
This mutation was identified on two Italian chromosomes.
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Reference
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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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