Mutation Details for c.1712T>C

cDNA Name c.1712T>C 
Protein Name p.Leu571Ser 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name L571S 
Other Details This mutation was detected by SSCP analysis of exon 12 followed by direct sequencing. L571S was detected to a single CF allele out of 119 non-[delta] CF chromosomes screened. It has not been found on any of the 65 normal alleles screened. The mutation was found in the paternal CF allele in a patient of Turkish origin. The amternal chromosomes carries the R347P mutation. The patient has severe cystic fibrosis with pancreatic insufficiency and pulmonary involovement. 
Contributors Savov A, Jordanova A, Angelicheva D, Kremensky I, Kalaydjieva L   1994-01-03
Institute Laboratory of Molecular Pathology Bulgaria 
Submitted Phenotype Details One patient (female, 10) diagnosed at 2 months, has severe CF, is PI, with moderate lung disease and sweat chloride 147 mmol/l. She carries R347P on the other allele. (pers.corr. Savov) 
Reference Savov et al. (NL#60) 

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The Database was last updated at Apr 25, 2011