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Table 1 MEFV genotypes and splicing events in FMF patients and healthy controls.

From: 1Novel MEFV transcripts in Familial Mediterranean fever patients and controls

Genotype Number of patients 5' Splicing eventsa 3' Splicing eventsa
   del34 del234 del2345 del7 del78
Genetically confirmed patients      
p.[M694V]+[=] 1   +   + +
  1      
p.[M694I]+[=] 1     + +
p.[M680I]+[=] 1 + +   + +
p.[V726A] +[=] 1   + +   
Heterozygous patients       
p.[M694V]+[?] 4   +   + +
  4      
  1   +    
  1     + +
  1      
p.[M694I]+[?] 1   +   + +
  1   +    
p.[V726A] +[?] 2 +     
  1      
p.[E148Q] +[?] 3      
  3     + +
  2   + + + +
  1 + +   + +
  1   +    
p.[M680I]+[?] 1      
  1   +   + +
p.[P369S/R408Q]+[?] 2   + + + +
  1   +   + +
p.[A744S]+[?] 2      
p.[K695R]+[?] 2   +   + +
p.[R761H]+[?] 1   +    
Healthy controls       
  11   +    
  9   +   + +
  9      
  1   + +   
  1     + +
  1 +    + +
  1   + + + +
  1 + + + + +
  1. a The + sign indicates the presence of the corresponding splicing event.