Mutation Details for c.263T>A
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cDNA Name
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c.263T>A
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Protein Name
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p.Leu88X
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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L88X(T->A)
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Other Details
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The nucleotide change T->A at position 395 leads to L88X. This change was observed on one patient from Bulgaria. The patient, heterozygote [delta]F508, has chronic pulmonary disease and pancreatic insufficiency.
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Contributors
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Kalaydjieva L,
Savov A
Ferec C,
Quere I,
Audrezet MP,
Mercier B
1993-01-19
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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L88X(T->A) was found together with G1069R in a 16 years old male patient carrying deltaF508 on the other allele, diagnosed at 4 mths of age. He is PI, has severe pulmonary symptoms and sweat chloride 63/113/93 mmol/l. The mutation was also found in 1 additional patient. (pers. corr. Savov)
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Reference
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Savov et al. 1994a
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