Table 3.

Previously described and novel TGFB3 and SMAD2 gene mutations

Gene	Exon	c‐notation	p‐notation	Domain	Reference	Times reported	Effect
TGFB3	1	c.106A > T	p.Lys36*	LAP	Current study	1	Pathogenic
TGFB3	2	c.437delT	p.Leu146Hisfs*68	LAP	Current study	1	Pathogenic
TGFB3	4	c.704delA	p.Asn235Metfs*11	LAP	(Bertoli‐Avella et al., 2015)	1	Pathogenic
TGFB3	4	c.754+2T > C	p.Glu216_Lys251del	LAP	(Bertoli‐Avella et al., 2015)	1	Pathogenic
TGFB3	5	c.787G > C	p.Asp263His	LAP	( Bertoli‐Avella et al., 2015 ), Current study	3	Likely pathogenic
TGFB3	5	c.796C > T	p.Arg266Cys	LAP	Current study	1	VUS
TGFB3	5	c.898C > T	p.Arg300Trp	RKKR motif	( Bertoli‐Avella et al., 2015 ), Current study	5	Pathogenic
TGFB3	5	c.899G > A	p.Arg300Gln	RKKR motif	( Matyas et al., 2014 ), Current study	2	Pathogenic
TGFB3	5	c.898C > G	p.Arg300Gly	RKKR motif	(Kuechler et al., 2015)	1	Likely pathogenic
TGFB3	6	c.965T > C	p.Ile322Thr	Cytokine	(Bertoli‐Avella et al., 2015)	1	Likely pathogenic
TGFB3	6	c.979G > T	p.Asp327Tyr	Cytokine	Current study	1	Likely pathogenic
TGFB3	6	c.1095C > A	p.Tyr365*	Cytokine	(Bertoli‐Avella et al., 2015)	1	Pathogenic
TGFB3	7	c.1157delT	p.Leu386Argfs*21	Cytokine	(Bertoli‐Avella et al., 2015)	1	Pathogenic
TGFB3	7	c.1202T > C	p.Leu401Pro	Cytokine	( Bertoli‐Avella et al., 2015 ), Current study	2	Likely pathogenic
TGFB3	7	c.1226G > A	p.Cys409Tyr	Cytokine	(Rienhoff et al., 2013)	1	Pathogenic
SMAD2	8	c.954T > A	p.Asn318Lys	MH2	Current study	1	Likely pathogenic
SMAD2	9	c.1082A > C	p.Asn361Thr	MH2	Current study	1	Likely pathogenic
SMAD2	10	c.1163A > G	p.Gln388Arg	MH2	(Micha et al., 2015)	1	Likely pathogenic
SMAD2	10	c.1190C > A	p.Ser397Tyr	MH2	Current study	1	Likely pathogenic
SMAD2	11	c.1346T > C	p.Leu449Ser	MH2	(Micha et al., 2015)	1	Likely pathogenic
SMAD2	11	c.1369G > A	p.Gly457Arg	MH2	(Micha et al., 2015)	1	Likely pathogenic
SMAD2	11	c.1400C > T	p.Ser467Leu	MH2	Current study	1	VUS

Mutations identified in this study are indicated in bold.