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Table 1 Mutations in SH3BP2

From: The role of SH3BP2 in the pathophysiology of cherubism

Nucleotide change Amino acid change Exon Phenotype Detection Literature
c.1244G>C p.Arg415Pro 9 cherubism germline Ueki et al. (2001)
c.1244G>A p.Arg415Gln 9 cherubism germline Ueki et al. (2001)
c.1253C>T p.Pro418Leu 9 cherubism germline Ueki et al. (2001)
c.1253C>G p.Pro418Arg 9 cherubism germline Ueki et al. (2001)
c.1253C>A p.Pro418His 9 cherubism germline Ueki et al. (2001)
c.1252C>A p.Pro418Thr 9 cherubism germline de Lange et al. (2007)
c.1256A>G p.Gln419Gly 9 cherubism germline Li and Yu (2006)
c.1255G>A p.Asp419Asn 9 cherubism germline Lietman et al. (2006)
c.1258G>C p.Gly420Arg 9 cherubism germline Ueki et al. (2001)
c.1258G>A p.Gly420Arg 9 cherubism germline Lo et al. (2001)
c.1259G>A p.Gly420Glu 9 cherubism germline Ueki et al. (2001)
c.147delCtranslation stop at nt325 (TGA) p.Arg49ArgfsX26 3 severe cherubism germline Carvalho et al. (2008)
c.320C>T p.Thr107Met 4 cherubism germline Carvalho et al. (2009)
c.1442A>T p.Gln481Leu 11 giant cell granuloma somatic Carvalho et al. (2009)