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Table 2 Clinical significance of the common mutations/variations found in the MEFV gene

From: Intestinal malrotation as a misdiagnosis of pediatric colchicine resistant familial Mediterranean fever

Mutations associated with classic familial Mediterranean fever (FMF)

 M694V

 M694I

 M680I

 V726A

Mutations associated both with classic and atypical FMF

 A744S

 K695R

 R761H

Mutations usually associated with atypical FMF

 P369S/R408Q (often in cis)

 R329H

Varients considered polymorphisms

  aE148Q

  aR202Q

  1. aCan be associated with disease in compound heterozygote with other mutations
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Pediatric Rheumatology

ISSN: 1546-0096