Mutation Details for c.2260G>A
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cDNA Name
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c.2260G>A
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Protein Name
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p.Val754Met
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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V754M
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes.
V754M was observed in a 14 year old male clinically affected by CF and referred from the Liverpool DNA lab by Roger Mountford. His sweat tests are positive although his respiratory involvement is very mild. His other mutation is G542X. V754M creates a novel NlaIII site.
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Contributors
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Wallace AJ
1996-06-21
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Institute
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Regional Molecular Genetics Lab,
St Mary's Hospital,
Manchester, UK.
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Phenotype Information
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CFTR2
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Reference
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Wallace (NL#69)
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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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