Mutation Details for c.1705T>C
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cDNA Name
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c.1705T>C
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Protein Name
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p.Tyr569His
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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Y569H
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Other Details
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This missense mutation was detected by DGGE and identified by sequence analysis. This substitution would result in a histidine at position 569. The mutation was found on a haplotype A in a young [delta}F508 heterozygous French patient.
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Contributors
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Costes B,
Ghanem N,
Auloge L,
Goossens M
1993-01-18
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Institute
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Centre Hospitalier Universitaire Henri Mondor
Paris, France
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Submitted Phenotype Details
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Y569H was found in a 13y old male diagnosed at 2y, also carrying deltaF508 on the other allele, PI, with moderate lung disease and positive sweat chloride. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#52)
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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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