Mutation Details for c.1735G>T
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cDNA Name
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c.1735G>T
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Protein Name
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p.Asp579Tyr
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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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D579Y
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Other Details
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This mutation is in exon 12 of the CFTR gene. The mutation was detected by multiplex DGGE analysis (Fanen et al) and identified by direct DNA sequencing. It is the substitution of a single base (G to T) at position 1867, which results in the replacement of an aspartate residue by a tyrosine residue at codon 579. The mutation was seen in two brothers with CF; their other mutation is [delta]F508, which is presumed, but not yet proven, to be on thier other chromosomes.
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Contributors
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Harris K,
Haworth A
Malone G,
Schwarz M
1994-07-28
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Institute
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Manchester Children's Hospital
Manchester, UK
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Submitted Phenotype Details
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Patients carrying delF508 on the other allele. (pers. corr. Harris)
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Reference
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Harris et al. (NL#63)
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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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