Mutation Details for c.3530A>G
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cDNA Name
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c.3530A>G
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Protein Name
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p.Lys1177Arg
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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K1177R
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Other Details
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A sequence variation in a normal subject in exon 19 of the human CFTR gene was identified by direct sequencing and dot blots hybridization with allele specific oligonucleotides. The nucleotide substitution is A-G at position 3662 which leads to a change of the Lysine codon to Arginine codon at positive 1177.
The 3662 A-G transition creates a new BstN I restriction site and may be detected by restriction only enzyme digest. This sequence variation was found only on one of 38 chromosomes screened.
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Contributors
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Baralle FE,
Serra C,
Kobal D
1994-01-31
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Institute
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International Center for Genetic Engineering and Biotechnology
Trieste, Italy
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Submitted Phenotype Details
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Reference
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Baralle et al. (NL#61)
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