Mutation Details for c.2195T>G
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cDNA Name
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c.2195T>G
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Protein Name
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p.Leu732X
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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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L732X
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Other Details
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This mutation (in exon 13 of the CFTR gene) was detected by SSCP analysis and identified by direct DNA sequencing. It is the substitution of a single base (T to G) at position 2327, which results in the replacement of a leucine residue by a termination codon at codon 732. The patient is a 9 year old boy whose other mutation is [delta]F508. His mother carries L732X and is half Italian and half English. We have seen this mutation once in approximately 40 non-[delta]F508 CF chromosomes so far analysed.
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Contributors
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Malone G,
Haworth A,
Schwartz M
1994-10-05
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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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Malone et al. (NL#63)
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