Table 1 Summary of the mutations reported in the TCN2 gene
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 |