Mutation Details for c.263T>C
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cDNA Name
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c.263T>C
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Protein Name
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p.Leu88Ser
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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L88S
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Other Details
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The mutation was detected by DNA sequencing and is a single base substitution from a thymine to a cytosine at position 395 of the CFTR gene. This results in the replacement of a leucine residue by a serine in codon 88. The patient has [delta]F508 on her other CF chromosome.
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Contributors
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Malone G,
Schwarz M,
Super M
1992-11-10
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Institute
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Royal Manchester Children's Hospital
Pendlebury, England
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Submitted Phenotype Details
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The CF patient carries DelF508 on the other allele.
(pers.corr.Schwarz)
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Reference
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Malone et al. (NL#51)
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