Mutation Details for c.340A>T
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cDNA Name
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c.340A>T
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Protein Name
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p.Lys114X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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K114X
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Other Details
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This mutation was identified, by D-HPLC and direct DNA sequencing, on one Italian CF chromosome out of 370. The K114X mutation was seen on a chromosome with R668C and G576A.
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Contributors
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Bonizzato A, Nicolis E, Dechecchi C, Assael MB, Cabrini G.
2004-10-11
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Institute
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Centro Fibrosi Cistica, Verona, Italy
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Submitted Phenotype Details
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The patient (male, 25 y) was diagnosed when 2 years old and presents a classic CF phenotype with PI and P. aeruginosa colonization. The other CF chromosome carries the delF508 mutation.
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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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