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Table 1 Summary of the mutations reported in the TCN2 gene

From: Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report

Exon gDNA Effect Reference
2 c.67A > G p.Ile23 Val Afman et al 2002 [9]
8 c.1196G > A p.Arg399Gln Afman et al 2002
5 c.703dupA p.Thr235Asn fs*69 Bartakke et al 2015 [10]
8 c.1127T > C p.Leu376Ser Grarup et al 2013 [11]
4 c.580 + 624A > T p.? Häberle et al 2009 [12]
7 c.940 + 303_c.1106 + 746delinsCTGG p.? Häberle et al 2009
8 c.1194C > T p.Arg399Ter Khera et al 2019 [13]
2 c.172delC p.Leu58Tyrfs*28 Li et al 1994 [4]
3 c.387delA p.Gln130Serfs*77 Li et al 1994
6 c.927-930del p.Cys309Trp fs*50 Li et al 1994
8 c.1110T > G p.Tyr370Term Li et al 1994
1–9 large deletion involving all but 3' end of gene p.? Li et al 1994
3 c.427 + 2 T > G p.? Namour et al 2003 [7]
1 c.64 + 4A > T p.? Nashabat et al 2017 [14]
7 c.1106 + 1G > A p.Met315fs Nissen et al 2010 [15]
8 deletion ex. 8 p.? Nissen et al 2010
8 c.1195C > T p.Arg399Term Prasad et al 2008
5 c.679C > T p.Arg227Term Pupavac et al 2016 [16]
1 c.62G > A p.Cys21Tyr Qian et al 2002 [17]
1 c.31C > G p.Leu11Val Qian et al 2002
2 c.145C > T p.His49Tyr Qian et al 2002
2 c.254T > A p.Leu85Gln Qian et al 2002
2 c.79G > C p.Asp27Asn Qian et al 2002
2 c.257G > A p.Gly86Glu Qian et al 2002
3 c.330dupC p.Ala111Argfs*7 Ratschmann et al 2009 [6]
4 c.580 + 1G > C p.? Schiff et al 2010 [18]
4 c.501_503del p.Leu167del Schiff et al 2010
8 c.1139dupA p.Tyr380Ter Schiff et al 2010
8 c.1117_1118del p.Gln373Glyfs*38 Schiff et al 2010
9 c.1236_1237del p.Tyr412fs Schiff et al 2010
3 c.423del p.Ile142Leufs*65 Trakadis et al 2014 [19]
3 c.348_349del p.Cys116fs Trakadis et al 2014
4 c.472G > T p.Gly158Cys Trakadis et al 2014
4 c.497_498del p.Leu166Profs*7 Trakadis et al 2014
5 c.745del p.Ala249Hisfs*6 Trakadis et al 2014
6 c.937C > T p.Arg313Ter Trakadis et al 2014
7 c.940 + 283_940 + 286del p.? Trakadis et al 2014
7 c.940 + 303_1106 + 764delinsCTGG p.? Trakadis et al 2014
7 c.1013_1014 delinsTAA p.Ser338Ilefs*27 Trakadis et al 2014
8 c.1106 + 1516_1222 + 1231del p.? Trakadis et al 2014
1 c.106C > T p.Gln36Term Ünal et al 2015 [20]
8 c.1107 − 347_1222 + 981delins 364 bp p.? Ünal et al 2015
7 c.1017-1031delinsGTAACAGAGATGGTT p.Leu340Ter Novel this paper
7 c. 1033C > T p.Gln345Ter Novel this paper