Mutation Details for c.3605delA
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cDNA Name
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c.3605delA
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Protein Name
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p.Asp1202AlafsX9
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3737delA
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Other Details
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This mutation was detected by the SSCP method and consists of an A deletion at nucleotide 3737 (3737delA). It creates a NSII restriction site (ATGCA'T) and can easily be detected on agarose or PAGE gels.
The patient M36 carries the [delta]F508 on the other chromosome, while patient M71 carries an unknown mutation on the other chromosome.
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Contributors
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Claustres M,
Stewart C,
Dean M
1991-07-30
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Institute
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null
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Submitted Phenotype Details
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The mutation was identified in 3 patients, all male, one with CBAVD diagnosed at 28y, PS, carrying I980K on the other allele, the other 2both PI, with severe lung disease and positive sweat chloride carrying deltaF508 on the other allele (age 12years, diagnosed when 3 years old) and Y1092X (age 17years, diagnosed at 4 months)(pers. corr Claustres)
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Reference
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Claustres et al. 1992b
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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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