Mutation Details for c.2341C>T
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cDNA Name
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c.2341C>T
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Protein Name
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p.Gln781X
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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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Q781X
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Other Details
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Using SSCP followed by Sequencing analysis, we identified a CF mutation that has not been reported previously. A C-to-T transition at nucleotide 2473 in exon 13 led to change of glutamine 781 to a stop codon (Q781X). This mutation is associated with severe CF phenotype in a Caucasian family. Two affected brothers who are compound heterozygotes of Q781X/1717-1G>A have classic presentations of CF with pancreatic insufficiency. To estimate the frequency of the mutation Q781X, we examined 72 DNA samples from pancreatic insufficient patients who are heterozygous for DF508 with an unidentified mutation. The results showed that none of these 72 non-related patients carries this
mutation. We conclude that this newly identified CF mutation, Q781X, is very likely a private mutation with extremely low frequency.
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Contributors
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Zhou Z,
Friedman K,
Blalock M,
Silverman L,
Knowles M,
Yankaskas J
1997-06-03
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Institute
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Departments of Pathology and Medicine,
University of North Carolina,
Chapel Hill, NC, USA
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Submitted Phenotype Details
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Reference
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Zhou et al. (NL#69)
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