Mutation Details for c.1408_1417delATGATTATGG
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cDNA Name
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c.1408_1417delATGATTATGG
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Protein Name
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p.Met470GlufsX54
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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1540del10
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Other Details
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This mutation is a ten base-pair deletion from the cDNA residue 1540 in exon 10, resulting in a frameshift producing a stop codon at the subsequent 54th codon. This genotype would generate truncated CFTR protein with 523 amino acids in total after translation.
The patient is a 11-month girl born to healthy Japanese parents without consanguineous marriage. At birth, she was found to have meconium ileus and subsequently underwent surgical operation for it. She also has pancreatic insufficiency and pulmonary manifestations such as cough and sputum, and exhibited high sweat Cl level (126 mEq/L), indicating that she has a clinical phenotype of typical CF.
Genetic analysis using PCR-SSCP combined with direct sequencing revealed that she is a compound heterozygote with two novel CFTR mutations: 1540del10 and M152R
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Contributors
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Yoshimura K
1999-01-22
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Institute
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Department of Gene Therapy
Institute of DNA Medicine,
Jikei University School of Medicine,
Tokyo, Japan
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Submitted Phenotype Details
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The patient (male, 17 months) has severe CF; he was diagnosed at 2 months of age, had meconium ileus, sweat chloride 126 mmol/l, is PI, has moderate respiratory symptoms, and carries M152R on the other allele. (Yoshimura et al. 2000)
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Reference
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Yoshimura 1998
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