Mutation Details for c.1673T>C

cDNA Name c.1673T>C 
Protein Name p.Leu558Ser 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name L558S 
Other Details This missense mutation was discovered in one of the CF genes from a Sicilian patient. A T->C substitution at nt 1805 in exon 11 (L558S) was found on one of 65 non-[delta]F508 CF chromosomes in the Sicilian population. The other allele is uncharacterized and the haplotypes associated with the CF alleles in this patient are AC (XV2C/KM19). The mutation can be detected by digestion of exon 11 with XmnI. 
Contributors Maggio A, Goossens M, Fanen P   1991-01-18
Institute Unite de Recherche en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Maggio et al. (NL#31) 

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The Database was last updated at Apr 25, 2011