Mutation Details for c.3409A>G
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cDNA Name
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c.3409A>G
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Protein Name
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p.Met1137Val
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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M1137V
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Other Details
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This mutation (M1137V) in exon 18 of CFTR gene. The nucleotide at position 3541 was changed from A to G leading to a substitution of methionine codon for valine codon at position 1137. The mutation was foudn once in 384 chromsomes (289 CF chromosomes and 95 normal chromosomes) screened. Mutation on the other chromosome of the pancreatic sufficient patient is unknown.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-10-15
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Institute
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Hosptial For Sick Children
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in a male CF patient, PS, with mild/moderate pulmonary symptoms and sweat chloride >70 mmoo/l. He carries an unknown mutation on the other allele. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#59)
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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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