Mutation Details for c.1856T>C
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cDNA Name
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c.1856T>C
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Protein Name
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p.Leu619Ser
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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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L619S
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Other Details
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A missense mutation L619S was detected in a single German CF family. The patient is pancreas insufficient and carries the 1716G->A polymorphism on the same allele (haplotype D) and an unknown mutation on the other chromosome. L619S was not found on further 37 non-[delta]F508 CF chromosomes and 30 normal chromosomes.
A silent mutation was identified within exon 17b. The change is A->T at nucleotide 3417 which does not change the corresponding amino acid Thr. This polymorphism is associated with the haplotype 1-1-2 and was found only once among 16 non-[delta]F508 CF chromosomes.
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Contributors
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Dork T,
Kalin N,
Tummler B
1991-10-11
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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The CF patient (male) is PI. He carries 1716G>A,L619S/CFTRdele2,3(21kb).
(pers corr Doerk and Vankeerberghen et al. 1998)
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Reference
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Dörk et al. 1991
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