Mutation Details for c.2T>A

cDNA Name c.2T>A 
Protein Name p.Met1Lys 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name M1K 
Other Details This mutation was detected by DGGE. It destroys a NlaIII restriction site. It has been found in one CF patient from Southern France. 
Contributors Claustres M, Culard JF, Laussel M, Razakatzara G   1992-01-31
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details Patient (F) died <20y,was CF diagnosed at 2, had PI, severe lung disease and elevated sweat-chloride levels. DeltaF508 was found on the other chromosome. (pers. corr. Claustres) 
Reference Claustres et al. 1993 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Fukao T, Yamaguchi S, Scriver CR, Dunbar G, Wakazono A, Kano M, Orii T, Hashimoto T   Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families.   1993;2(3):214-20

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The Database was last updated at Apr 25, 2011