Mutation Details for c.550delC
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cDNA Name
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c.550delC
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Protein Name
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p.Leu184PhefsX5
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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681delC
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Other Details
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This mutation was detected by SSCP analysis of DNA amplified by PCR using the following primers: 5i-5s; 5'-CCTGAGAAGATAGTAAGCTAG-3' and 51-3; 5'-AACTCCGCCTTTCCAGTTGT-3' (315bp fragment). This frameshift creates termination codon (TAG) at the fifth triplet from the site of deletion. The deletion does not create or destry any restriction site. The mutation was found in one among 272 CF chromosomes (186 non-[delta]F508 chromosomes). The mutation on the other chromosomes of the patient carrying the frameshift is R334W, which has been recognized as a mild allele in our previous studies. This genotype is in agreement with PS status of the patient.
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Contributors
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Zielinski J,
Xia YH,
Tsui LC
1992-04-15
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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 identified in a male patient, 4y, diagnosed at 6 months of age, PS, with mild pulmonary symptoms and sweat chloride 104-131 mmol/l. He also carries R334W on the other allele.(Zielenski et al. 1995 and pers. corr. Zielenski)
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Reference
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Zielenski et al. 1995
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