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Table 1 Summary of identified pathogenic variants in the TRAPPC2 gene

From: A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family

NumberGene RegionNucleotide ChangeMutation TypePredicted Amino Acid ChangeOriginYear of Report
1Intron 2c.-19-2A > CSpice SiteChinese2003 [10]
2Intron 2c.-19-2A > GSpice SiteFrench2001 [11]
3Intron 2 and Exon 3deletion 1763 bp across I2E3 boundaryDeletionJapanese2001 [12]
4Exon 3c.6delTDeletionp.S4Afs*4Brazilian2018 [13]
5Exon 3c.40delGDeletionp.D14Ifs*23Korean2012 [14]
6Exon 3c.53_54delTTDeletionp.F18*Australian1999 [3]
7Exon 3c.61G > TNonsensep.E21*Chinese2014 [15]
8Exon 3Exon3delDeletionAustralian2001 [11]
9Intron 3c.93 + 1G > ASpice SiteJapanese2014 [16]
10Intron 3c.93 + 5G > CSpice SiteChinese2013 [17]
11Intron 3c.93 + 5G > ASpice SiteChinese2015 [18]
12Intron 394-2A > GSpice SiteJapanese2018 [19]
13Exon 4–6deletion Exon 4–6DeletionEuropean2004 [20]
14Exon 4c.100delCDeletionp.H34Ifs*3European2004 [20]
15Exon 4c.139G > TMissensep.D47YDanish2001 [11]
16Exon 4c.157_158delATDeletionp.M53Vfs*34Australian1999 [3]
17Exon 4c.167C > ANonsensep.S56*Germany2003 [21]
18Exon 4c.182 T > ANonsensep.L61*Mexican2001 [11]
19Exon 4c.183_184delGADeletionp.K62Nfs*25European2004 [20]
20Exon 4c.191_192delTGDeletionp.V64Gfs*23Australian1999 [3]
21Exon 4c.209G > ANonsensep.W70*Chinese2008 [22]
22Exon 4c.210G > ANonsensep.W70*European2001 [23]
23Exon 4c.216_217delDeletionp.S73Gfs*15ChinesePresent Study
24Exon 4c.218C > TMissensep.S73LNorwegian2001 [11]
25Intron 4c.238 + 1A > GSpice SiteChinese2009 [24]
26Intron 4c.238 + 4 T > CSpice SiteItalian2003 [25]
27Intron 4c.239-11_239-9delAATSpice SiteTurkish2014 [26]
28Intron 4c.239-11_239-4delAATTATTTSpice SiteGerman2001 [11]
29Intron 4c.239-10_239-7delATTASpice SiteNorth American2001 [11]
30Exon5c.239A > GMissensep.H80RChinese2008 [27]
31Exon 5c.241_242delATDeletionp.M81Efs*6French2001 [11]
32Exon 5c.248 T > CMissensep.F83SBritish2001 [28]
33Exon 5c.262_266delGACATDeletionp.D88Kfs*11Canadian2001 [11]
34Exon 5c.271C > TNonsensep.Q91*2000 [29]
35Exon 5c.271_275delCAAGADeletionp.Q91Rfs*8North American2000 [30]
36Exon 5c.272_273delAADeletionp.Q91Rfs*9Finnish2001 [11]
37Exon 5c.293delTDeletionp.F98Sfs*10Chinese2003 [31]
38Exon 5c.320dupTInsertionp.F109Vfs*7Native Australian2001 [11]
39Intron 5c.325-10_325-4delTCTTTCCinsAASpice SiteFrench2001 [11]
40Intron 5c.325-2A > CSpice SiteAustralian2001 [11]
41Intron 5 and Exon 6deletion 1330 bp across I5E6DeletionAustralian2001 [11]
42Intron 5 and Exon 6deletion 1335 bp across I5E6 boundaryDeletionBelgian2003 [25]
43Intron 5 and Exon 6deletion 1371–1445 bp across I5E6 boundaryDeletionEuropean2001 [23]
44Intron 5 and Exon 6deletion 750 bp across I5E6 boundaryDeletionEuropean2001 [23]
45Intron 5 and Exon 6c.325-2_335delAGTTTTCAATGAADeletionp.F109Sfs*3Chinese2004 [32]
46Exon 6c.328delTDeletionp.S110Qfs*1European2004 [20]
47Exon 6c.329C > ANonsensep.S110*Chinese2002 [33]
48Exon 6c.333_336delGAATDeletionp.M111Ifs*29Slovakian2003 [25]
49Exon 6c.345_346delTGDeletionp.Y115*European2004 [20]
50Exon 6c.364C > TNonsensep.R122*European2001 [23]
51Exon 6c.370dupAInsertionp.S124Kfs*3Chinese2009 [34]
52Exon 6c.387delADeletionp.V130Ffs*9Jewish Ashkenazi2004 [35]
53Exon 6c.389 T > AMissensep.V130DJapanese2001 [11]
54Exon 6c.391C > TNonsensep.Q131*Japanese2002 [36]