Mutation Details for c.1329_1330insAGAT
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cDNA Name
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c.1329_1330insAGAT
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Protein Name
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p.Ile444ArgfsX3
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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1461ins4
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Other Details
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The change has been detected by SSCP analysis of DNA amplified by PCR using the following primers: 9i-5s; 5'-ACAGGGATTTGGGGAATTATTTG-3' and 9i-3s; 5'AAGAGACATGGACACCAAAT-3'. Insertion of four nucleotides AGAT was detected after position 1461. The insertion is a duplication of preceding sequence and creates a stop codon TAA caused by changing the reading frame. The mutation has been found once among 232 CF chromosomes. Mutation on the other chromosome of the pancreatic sufficient CF patient is unknown.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-01-20
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Institute
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The Hospital For Sick Children
Toronto, Canada
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Phenotype Information
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CFTR2
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Reference
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Zielenski et al. 1995
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