Mutation Details for c.1558G>A

cDNA Name c.1558G>A 
Protein Name p.Val520Ile 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name V520I 
Other Details This mutation , in exon 10 of the CFTR gene, was detected by direct DNA sequencing and is a single base substitution from a guanine to an adenine at base 1690 of exon 10 of the CFTR gene. This results in the replacement of a Valine residue by an isoleucine in codon 520. The patient is a 7 year old boy from India and has an as yet unknown mutation on his other CF chromosome. We have seen this mutation once in 20 non-[delta]F508 CF chromosomes analysed by direct sequencing. 
Contributors Malone G, Haworth A Schwarz M, Super M   1993-11-17
Institute Royal Manchester Children's Hospital Macnhester, UK 
Submitted Phenotype Details One male indian patient born in 1986, sweat chloride ~70mmol/l, moderate lung disease, carrying an unknown mutation on the other allele. (pers. corr. Schwarz) 
Reference Malone et al. (NL#60) 

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The Database was last updated at Apr 25, 2011