Mutation Details for c.1253A>G

cDNA Name c.1253A>G 
Protein Name p.Asn418Ser 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name N418S 
Other Details A novel mutation was identified by SSCP and direct sequencing. The nucleotide change A->G at position 1385 in exon 9 resulting in a replacement of a asparagine by a serine at position 418 (N418S). This mutation was found in two unrelated CF alleles. Both patients are compund heterozygous for [delta]F508. 
Contributors Savov A, Angelicheva D, Jordanova A   1994-11-22
Institute Laboratory of Molecular Pathology, Sofia, Bulgaria 
Submitted Phenotype Details Savov is reporting N418S as a polymorphism. The patient has delF508 on the other allele (pers. corr. Savov) 
Reference Sava et al. (NL#64) 

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The Database was last updated at Apr 25, 2011