Mutation Details for c.149C>A
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cDNA Name
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c.149C>A
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Protein Name
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p.Ser50Tyr
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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S50Y
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Other Details
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New missense mutation detected in exon 2 of the CFTR gene. Transversion C to A at position 281 of the CFTR gene was detected in a CBAVD patient by heteroduplex-MDE analysis using the following exon 2 specific primers: 21-5, 5'-CCAAATCTGTATGGAGACCA-3' and 2i-3s, 5'-AGCCACCATACTTGGCTCCT-3'. The change leads to a substitution of tyrosine for serine at position 50 of the polypeptide (S50Y). Except the [delta]F508 mutation and two variants (1898+152A and 1001+11T) no other change was detected by heteroduplex analysis of all CFTR exons in this patient. The S50Y allele was found once among 126 chromosomes from CBAVD patients.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1994-06-21
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Institute
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Hospital For Sick Children
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in a CBAVD patient, carrying deltaF508 on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#63)
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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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