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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.