Mutation Details for c.920G>A
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cDNA Name
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c.920G>A
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Protein Name
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p.Ser307Asn
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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S307N
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Other Details
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This mutation was detected by heteroduplex analysis in a 38 year-old CBAVD patient of Turkish origin. It was not present in 134 CF and 60 normal chromosomes. The patient was also found to have the 5T allele in cis with TG12 on the other CF chromosome. The serine residue is highly conserved in the CFTR of human, bovine, mouse, Xenopus and dogfish. It abolishes a FokI site.
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Contributors
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Onay T,
Kirdar B
1998-02-26
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Institute
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Bogazici University,
Istanbul, Turkey
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Submitted Phenotype Details
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Reference
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Onay & Kirdar (NL#70)
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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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