Mutation Details for c.412_413insACT
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cDNA Name
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c.412_413insACT
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Protein Name
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p.Leu137_Leu138insThr
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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L138ins
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Other Details
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Missense mutations D58N, L568F and the leucine insertion at position 138 were all found in heterozygous CBAVD patients with yet unidentified mutations on their other alleles. We have chosen the symbol [inverse-delta] to designate an amino acid insertion but other proposals would be similarly welcome.
L-CT NOTE: L138ins is assigned to this mutation, according to the newly recommended guideline.
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Contributors
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Dörk T,
Schmidtke J,
Stuhrmann M
1996-10-06
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Institute
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Insitut fur Humangenetik, Medezinische Hochschule Hannover,
Hannover, Germany.
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Submitted Phenotype Details
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The patient (male, 34) was diagnosed at 33y with CBAVD, is PS,has no lung disease and sweat chloride is 53 mmol/l. He carries the 5T mutation on the other allele.
(pers. corr. Dork)
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Reference
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Dörk et al. (NL#69)
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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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