Mutation Details for c.3266G>A
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cDNA Name
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c.3266G>A
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Protein Name
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p.Trp1089X
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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W1089X
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Other Details
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The mutation is a G->A subsitution at nucleotide position 3398. This mutation should create a termination signal at amino acid 1089 (W1089X). The mutation was found by direct sequencing and does not create or destryo a restriction site. The chromosome carrying this mutation is of Jewish Turkish origin. It was not found in 22 other CF chromosomes.
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Contributors
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Shoshani T,
Bashan N,
Kerem B
1991-11-14
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Institute
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The Hebrew University of Jersualem
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Phenotype Information
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CFTR2
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Reference
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Shoshani et al. 1994
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