Mutation Details for c.148T>C

cDNA Name c.148T>C 
Protein Name p.Ser50Pro 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name S50P 
Other Details Abnormal pattern in SSCA exon 2 was observed for I50T. Direct sequence of the sample allowed us to detect this new mutation. This mutation was observed in a Spanish man with CBAVD, carrying DE115 in the other chromosome.  
Contributors Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X   1995-01-31
Institute Institute de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details This mutation was found in 2 patients, both males. 1. Patient is 32y, has PS, sweat chloride levels of 74mmM/l and CBAVD. E115del was found on the other chromosome. 2. Patient has CBAVD, no other information is known about this individual. (Pers. corr. Casals) 
Reference Casals et al. (NL #65) 

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The Database was last updated at Apr 25, 2011