Mutation Details for c.1487G>A
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cDNA Name
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c.1487G>A
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Protein Name
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p.Trp496X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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W496X
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Other Details
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This mutation was identified by DGGE analysis and direct sequencing. The nucleotide subsitution G->A at position 1619 in exon 10 creates a stop codon instead of a tryptophan in codon 496 (W496X). It was detected in only one CF chromosome (20 CF chromosomes analyzed carrying the same haplotype C (Xv2C, KM19) and was not found in more than 20 normal chromsomes.
The above mutation abolishes a ScrfI recognition site and creates a MaeI site.
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Contributors
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Balassopoulou A
1993-06-17
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Institute
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Laikon General Hospital
Athens, Greece
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Submitted Phenotype Details
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Reference
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Balassopoulou et al. 1994
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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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