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. 2009 Dec 30;4(12):e8480. doi: 10.1371/journal.pone.0008480

Table 1. MEFV mutations identified in the trios.

SNP ID Variants Exon Associated phenotype1 Allele frequency (%) Conservation
FMS dbSNP2
rs11466018 L110P 2 Unknown 1.5 2.1 chimpanzee, monkey
rs3743930 E148Q 2 FMF atypical; FMF with criteria 3.5 2.1 mouse, rat, chimpanzee, monkey, rabbit, cow
rs224222 R202Q 2 Unknown 22.5 29.6 chimpanzee, rabbit, cow
n/a A289V 2 FMF with criteria 0.5 n/a chimpanzee, monkey
n/a R329H 3 Unknown 0.5 n/a chimpanzee, monkey, rabbit
rs11466023 P369S 3 Unknown 3.5 4.4 mouse, rat, chimpanzee, monkey, rabbit, cow
rs11466024 R408Q 3 Unknown 3.5 2.4 mouse, rat, chimpanzee, monkey, rabbit, cow
n/a A457V 5 Unknown 0.5 n/a chimpanzee, monkey
rs11466045 I591T 9 FMF with criteria 1.1 1.3 chimpanzee, monkey, rabbit
n/a K695R 10 FMF with criteria 0.5 n/a chimpanzee, monkey, rabbit
rs61732874 A744S 10 FMF with criteria 0.5 n/a chimpanzee
1

Infevers Database: http://fmf.igh.cnrs.fr/ISSAID/infevers/; a diagnosis of FMF requires compound heterozygotes.