Mutation Details for c.2048A>G
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cDNA Name
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c.2048A>G
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Protein Name
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p.Lys683Arg
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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K683R
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Other Details
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This missense was identified on a paternal allele and associated to delta F508 on the maternal allele when looking for CF mutations in a case of echogenic abnormalities in a fetus. K683R could be a polymorphism as K is not a conserved residue (Proline in mouse and Arginine in dogfish) and the aminoacid change is not severe.There is no case of CF in the two families.
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Contributors
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Chevalier-Porst F,
Bozon D
2000-04-25
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Institute
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Biochimie Pediatrique
Hopital Debrousse,
Lyon France
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Submitted Phenotype Details
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This individual may NOT be a CF patient. The mutation was found in a foetus infected with te Parvovirus.
DeltaF508 was found on the otehr allele.
(Pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon 2000
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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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