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Table 1 Ext1 and Ext2 mutations in Japanese MO families

From: Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas

Familiy number The number of participants Gene The number of the exon Mutation Amino acid change Nucleotide change Novel/Reported Familial/Sporadic
MO-1 4 EXT2 Exon6 Missense p.C339F c.1016G > T R F
MO-2 4 EXT1 Exon6 Frame shift p.T488fs c.1462AΔ1nt N F
MO-3 3 EXT1 Exon6 Frame shift p.T490fs c.1469TΔ1nt R F
MO-4 2 EXT1 Exon8 Frame shift p.F550fs c.T1650Δ1nt N F
MO-5 1 a- - - - - - F
MO-6 1 EXT1 Exon5 Frame shift p.R433fs c.A1297Δ2nt R F
MO-7 1 EXT2 Exon 5 Missense p.R297H c.890G > A N F
MO-8 2 EXT1 Exon1 Nonsense p.Q27X c.79C > T N F
MO-9 2 - - - - - - F
MO-10 1 - - - - - - F
MO-11 1 EXT1 Exon2 Missense p.R341S c.1023G > C R F
EXT2 Exon2 Missense p.R128W c.382C > T R F
MO-12 2 - - - - - - F
MO-13 1 EXT2 Exon8 Nonsense p.W429X c.1286G > A R F
MO-14 1 EXT1 Exon6 Frame shift p.L490fs c.1469TΔ1nt R F
MO-15 1 - - - - - - F
MO-16 1 EXT2 Exon3 Nonsense p.R182X c.544C > T R F
MO-17 2 - - - - - - F
MO-18 1 - - - - - - F
MO-19 1 - - - - - - S
MO-20 1 EXT2 Exon5 Insertion p.V282ins c.846A insertion N S
MO-21 2 EXT1 Exon2 Missense p.R340H c.1019G > A R F
MO-22 1 - - - - - - F
MO-23 2 - - - - - - F
MO-24 1 EXT2 Exon5 Missense p.R299H c.896G > A R F
MO-25 1 EXT1 Exon5 Frame shift p.P466fs c.1395del del. R F
EXT1 Exon8 Missense p.F550S c.1649T > C N F
MO-26 2 - - - - - - F
MO-27 1 EXT2 Exon2 Frame shift p.F30fs c.88TΔ5nt N F
MO-28 1 EXT1 Exon2 Missense p.R340L c.1019G > T R F
MO-29 2 EXT1 Exon3 Missense p.C355Y c.1064G > A N F
MO-30 1 - - - - - - F
MO-31 2 EXT1 Exon1 Nonsense p.W304X c.912G > A R F
MO-32 3 EXT1 Exon9 Nonsense p.W612X c.1797G > A R F
MO-33 2 EXT1 Exon1 Frame shift p.L26fs c.78 T (Δ1nt) N F
MO-34 2 - - - - - - F
MO-35 1 EXT2 Intron7 Splicing mutation - c.(1173 + 1)G > A R F
MO-36 1 EXT2 Exon3 Nonsense p.R182X c.544C > T R F
MO-37 2 EXT1 Exon1 Nonsense p.Q165X c.493C > T R F
MO-38 1 - - - - - - F
MO-39 1 - - - - - - S
MO-40 1 EXT1 Exon2 Missense p.R340H c.1019G > A R F
MO-41 2 - - - - - - F
MO-43 2 EXT1 Exon2 Missense p.R341S c.1023G > C R F
MO-44 2 EXT2 Exon3 Missense p.A202V c.605C > T R F
EXT1 Exon1 Nonsense p.G24X c.70G > T N F
MO-45 4 EXT1 Exon1 Frame shift p.R314fs c.941G (+2nt) N F
MO-46 1 EXT1 Exon1 Nonsense p.E74X c.220G > T N F
MO-47 1 EXT2 Exon2 Missense p.L152R c.455T > G R F
EXT1 Exon1 Missense p.Q150R c.499A > G N F
MO-48 1 EXT1 Exon1 Frame shift p.T297fs c.888CΔ1nt N F
MO-49 4 - - - - - - F
MO-50 2 EXT2 Exon7 Nonsense p.Y374X c.1122C > A N F
MO-51 1 EXT2 Exon2 Frame shift p.S121fs c.361TΔ2nt R F
MO-52 2 EXT2 Exon4 Missense p.D227N c.679G > A R F
MO-53 1 EXT1 Exon3 Frame shift p.M359fs Δ8nt N F
MO-54 1 - - - - - - F
MO-55 1 - - - - - - F
MO-56 1 EXT1 Exon10 Nonsense p.Q685X c.2053C > T R F
MO-57 2 EXT1 Exon1 Frame shift p.K321fs c.960GΔ1nt N F
MO-58 1 EXT2 Exon6 Missense p.P341T c.1021C > A N F
MO-59 1 EXT1 Exon1 Missense p.I221V c.661A > G N F
EXT1 Exon5 Frame shift p.P466fs c.1395TΔ1nt R F
MO-60 2 EXT1 Exon2 Missense p.R340H c.1019G > A R F
MO-61 2 EXT1 Exon1 Frame shift p.K218fs Δ14nt R F
MO-65 1 - - - - - - F
MO-66 1 EXT1 Exon1 Frame shift p.K218fs Δ18nt R F
MO-67 1 - - - - - - S
MO-68 1 - - - - - - F
MO-70 1 EXT1 IVS9 Splicing mutation   intron/exon10 G > A N F
MO-72 2 EXT1 Exon1 Nonsense p.E139X c.415G > T N F
MO-73 1 EXT2 Exon5 Missense p.R299H c.896G > A R F
MO-74 3 - - - - - - F
MO-75 2 EXT2 Exon4 Missense p.D227N c.679G > A R F
MO-76 1 - - - - - - F
MO-77 1 EXT1 IVS5 Splicing mutation   exon5/intron G > T N F
  1. a- indicates no mutations detected