Mutation Details for c.169T>G

cDNA Name c.169T>G 
Protein Name p.Trp57Gly 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name W57G 
Other Details This mutation has been detected in an Italian CF patient, through DGGE and direct sequencing. The mutation generates a Trp to Gly substitution. This mutation hass been detected in a PS patient (maternal chromosome), originating from Lombardy, associated with Haplotype A. The paternal chromosome carries the mutation R352Q. The W57G mutation was not detected in an additional 59 non-[delta]F508 CF chromosomes and 20 normal chromosomes. 
Contributors Ferrari M, Cremonesi L, Belloni E   1992-07-06
Institute Istituto de Ricovero e Cura a Carattere Scientifico Milano, Italy 
Submitted Phenotype Details The patient (female,26) was diagnosed at 22y,, is PS, has sweat chloride 101 mmol/l and severe lung disease (FEV1=35%)and had lung transplant when 30 years old. R352Q was present on the other allele. (pers. corr. Cremonesi) 
Reference Ferrari et al. (NL#47) 

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The Database was last updated at Apr 25, 2011