Mutation Details for c.859_863delAACTT
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cDNA Name
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c.859_863delAACTT
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Protein Name
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p.Asn287LysfsX19
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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991del5
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Other Details
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The 991del5 mutation was detected by DGGE/heteroduplex analysis and direct sequencing. The mutation destroys an AFlII site and was found in 2 Sardinian CF chromosomes.
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Contributors
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Leoni G B,
Rosatelli M C,
Cao A
1996-03-22
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Institute
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Universita Degli Studi di Cagliari, Italy
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Submitted Phenotype Details
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The mutation was found in 2 patients, one male (26 years old, diagnosed at 16 years of age, PI, with high sweat chloride and severe lung disease) and one female (T338I heterozygous with hepatopathy).
(pers. corr. Rosatelli)
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Reference
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Leoni et al. (NL#68)
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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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