Mutation Details for c.1517T>C

cDNA Name c.1517T>C 
Protein Name p.Ile506Thr 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I506T 
Other Details The whole coding and flanking sequence has been screened by DGGE, and no other alteration could be found except known polymorphisms. This second mutation at codon 506 ( the first, 1506S, was described by Deufel) was thoroughly checked by two different sequences from different PCR products. 
Contributors Claustres M, Desgeorges M, Romey M-C   1994-04-20
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details Patient (M) is >10y, no clinical information is known about this individual. 2589+5G>A was found on the other allele. (pers. corr. Desgeorges) 
Reference Desgeorges et al. 1995 

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The Database was last updated at Apr 25, 2011