Mutation Details for c.2074G>T
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cDNA Name
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c.2074G>T
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Protein Name
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p.Glu692X
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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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E692X
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Other Details
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A new mutation was detected by SSCA in exon 13 and identified by direct sequencing. The change is a G to T substitution at nucleotide 2206 which causes a stop codon at position 692 instead of glutamic acid (E692X). This mutation was found in one Spanish child with [delta]F508 on the other chromosom
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Contributors
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Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill
1994-11-07
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Institute
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Insititut de Recerca Oncologica
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Submitted Phenotype Details
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The mutation was described associated with severe CF phenotype in Spanish patients. Clinical details in a 16 years old male patient diagnosed at 9 years of age are: PI, FEV1 88% and sweat chloride over 100 mmol/l. He carries deltaF508 on the other allele. (Casals et al. 1997 and pers. corr. Casals)
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Reference
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Casals et al. (NL#64)
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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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