Mutation Details for c.3689T>C

cDNA Name c.3689T>C 
Protein Name p.Ile1230Thr 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name I1230T 
Other Details This putative mutation was found by DGGE and identified by DNA sequencing. It does not modify any restriction site. 
Contributors Claustres M, Maugard C   1997-03-21
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (M) is an aduld, he has PS, no lung disease and OATS. No other mutation was found. (Pers. corr. Claustres) 
Reference Claustres & Maugard (NL#69) 

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The Database was last updated at Apr 25, 2011