Mutation Details for c.1057C>T
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cDNA Name
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c.1057C>T
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Protein Name
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p.Gln353X
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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Q353X
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Other Details
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This mutation was detected by DGGE analysis, identified by direct DNA sequencing and confirmed by restriction site generating PCR assay. A modified primer (ATGTTTGTACAGCCC AGGGAAAGT) creates a RsaI site when the mutation is present. The mutation was seen in heterozygous form in two North-Eastern Italian CF patients. These subjects were presented with pancreatic
insufficiency and severe lung disease.
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Contributors
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Seia M,
Rainoldi A,
Bonizzato A
2000-04-11
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Institute
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Istituti Clinici di Perfezionamento
Milano, Italy
Centro Fibrosi Cistica
Verona, Italy
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Submitted Phenotype Details
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The mutation was found in a 24-year old female cayying delF508 on the other allele. She was diagnosed with CF at 3.2yr of age, is PI, has severe lung disease with FEV1 16%, B. cepacia colonization, sweat chloride 108 mEq/l. She died of respiratory insufficiency. The mutation was also found in one additional patient.(pers. corr. Padoan)
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Reference
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Seia et al. 2000
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