Mutation Details for c.1558G>A
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cDNA Name
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c.1558G>A
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Protein Name
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p.Val520Ile
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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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V520I
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Other Details
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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.
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Contributors
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Malone G,
Haworth A
Schwarz M,
Super M
1993-11-17
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Institute
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Royal Manchester Children's Hospital
Macnhester, UK
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Submitted Phenotype Details
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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)
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Reference
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Malone et al. (NL#60)
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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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