Mutation Details For C.1A>G - Cystic Fibrosis Mutation Database

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Mutation Details for c.1A>G

cDNA Name c.1A>G
Protein Name p.Met1Val
Exon or Intron exon 1
Legacy Exon or Intron exon 1
Legacy Name M1V
Other Details We believe that this is disease causing because: (i) In eukaryotes, the triplet AUG provides the sole translation initiation codon, (it is only in bacteria that the GUG triplet is sometimes used). (ii) We have not identified any other mutations in this CF chromosome, having sequenced 1-5, 6a, 6b, 7-12, 14a, 14b, 17b and 19-24. (iii) We have failed to identify this substitution on 45 normal chromosomes and over 50 [delta]F508 CF chromosomes. The mutation destroys an NlaIII site and creates a BsqI site. The mutation accounts for 0.3% (1/369) of our total CF chromosomes.
Contributors Cheadle J, Meredith L 1993-02-04
Institute Univereity of Wales College of Medicine
Phenotype Information CFTR2
Reference Cheadle et al. 1994
To check if there are any papers published about this mutation/variant on PubMed, please click here.
Literature referencing this mutation. Sort by: Author Publish Date Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.
  • Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. 1998 001;6(1):61-70
  • Cheadle JP, Belloni E, Ferrari M, Millar-Jones L, Meredith AL A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. 1994 008;3(8):1431-2
  • Gal A, Veske A, Jojart G, Grammatico B, Huber B, Gu S, del Porto G, Senyi K Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype. 1996;(219):13-6
  • John SW, Scriver CR, Laframboise R, Rozen R In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. 1992;1(2):147-53
  • Lyonnet S, Melle D, de Braekeleer M, Laframboise R, Rey F, John SW, Berthelon M, Berthelot J, Journel H, Le Marec B, et al Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France. 1992 007;51(1):191-6
  • Mashima Y, Shinoda K, Ishida S, Ozawa Y, Kudoh J, Iwata T, Oguchi Y, Shimizu N Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. 1999;13(4):338
  • Rozen R, Mascisch A, Lambert M, Laframboise R, Scriver CR Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations. 1994 008;55(2):321-6

Comments or questions? Please email to cftr.admin The Database was last updated at Apr 25, 2011

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