Mutation Details for c.3468G>T
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cDNA Name
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c.3468G>T
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Protein Name
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p.Leu1156Phe
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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L1156F
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Other Details
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A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is G to T change at nucleotide 3599 in exon 18 which would lead to an leucine to phenylalanine replacement in the protien sequence at residue 1156(L1156F). This mutation has been found in an adult, Japanese healthy female who was studied for couple's infertility.
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Contributors
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Angius A, Stasi M., Becchetti T., Furbetta M.
2007-06-12
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Institute
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Pediatria, Laboratorio di Genetica Moleculare, Universita degli Studi di Perugia, Italy
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Submitted Phenotype Details
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Reference
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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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