Mutation Details for c.303_304insA
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cDNA Name
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c.303_304insA
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Protein Name
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p.Leu102ThrfsX9
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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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435insA
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Other Details
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This mutation was found in two Turkish siblings (9 and 15 years old) who carry a yet unknown mutation on the other chromosome. The insertion creates a recogntion site for Mse I digestion of exon 4 PCR product yields five fragments for the mutant (33, 35, 56, 71, 244) and four fragemnts for the normal allele (33, 35, 71, 299). This fragent length pattern is nearly identical to that of the splice mutation 621+1G->T. 435 insA is associated with the haplotype 2-2-1 and seven GATT repeats. The insertion restults in a stop codon at position 110 and was detected only onc e among 14 Turkish and 102 German non-[delta]F508 CF chromosomes.
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Contributors
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Dork T,
Tummler B,
Kalin N
1991-09-12
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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 mutation was identified in 2 siblings, genotype 435insA/2184delA,2183A->G, both male (7 and 16 years old), diagnosed in infancy, both PI with moderate lung disease, chronic PA colonization and hepatosplenomegalie.(Kalin et al. 1992)
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Reference
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Kälin et al. 1992b
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