Mutation Details for c.1466C>A
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cDNA Name
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c.1466C>A
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Protein Name
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p.Ser489X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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S489X
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Other Details
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This mutation was detected by SSCP analysis and identified by direct DNA sequencing in exon 10 of the CFTR gene. It is the substitution of a single base (C to A) at position 1598, which results in the replacement of a serine residue by a termination codon at codon 489. The patient is a 17 year old female whose other mutation is G551D
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Contributors
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Macdonald K,
Haworth, A
Malone G,
Schwarz M
1994-08-15
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Institute
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Manchester Children's Hospital
Manchester, UK
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Phenotype Information
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CFTR2
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Reference
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Macdonald 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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