Mutation Details for c.3884_3885insT
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cDNA Name
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c.3884_3885insT
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Protein Name
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p.Ser1297PhefsX5
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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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4016insT
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Other Details
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This is the insertion of a single T in a poly-T repeat. This frameshift mutation would create a stop codon, four codons downstream of the repeat:
Normal: 5'-ATT TTT TCT GGA ACA TTT AGA - 3'
Mutant: 5'-ATT TTT TTC TGG AAC ATT TAG - 3'
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Contributors
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Cheadle J,
Meredith L
1992-06-21
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Institute
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University of Wales College of Medicine
Health Park, Cardiff
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Phenotype Information
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CFTR2
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Reference
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Cheadle et al. 1993a
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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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