Table 2.

Exon mutations identified in the SMAD3 gene.

ID	Mutation	Exon	Predicted protein change	Protein domain	Reference
1	c.3G>A	1	p.Met1Ile	MH1	[10]
2	c.266G>A	2	p.Cys89Tyr	MH1	This study
3	c.313delG	2	p.Ala105Profs∗11	MH1	[3]
4	c.335C>T	2	p.Ala112Val	MH1	[1]
5	c.401_405dup	3	p.Pro136Phefs∗52	MH1	[9]
6	c.539_540insC	4	p.Pro180Thrfs∗7	Linker	[3]
7	c.546delT	4	p.Gly183Alafs∗3	Linker	[11]
8	c.584_585insTC	4	p.Gln195Hisfs∗3	Linker	[11]
9	c.652delA	5	p.Asn218Thrfs∗23	Linker	[1]
10	c.668delC	6	p.Pro223Glnfs∗18	Linker	[4]
11	c.715G>A	6	p.Glu239Lys	MH2	[1, 8, 11]
12	c.733G>A	6	p.Gly245Arg	MH2	[4]
13	c.741_742delAT	6	p.Thr247Profs∗61	MH2	[2]
14	c.742T>C	6	p.Phe248Leu	MH2	[4]
15	c.782C>T	6	p.Thr261Ile	MH2	[2]
16	c.788C>T	6	p.Pro263Leu	MH2	[3]
17	c.836G>A	6	p.Arg279Lys	MH2	[1]
18	c.859C>T	6	p.Arg287Trp	MH2	[2, 11]
19	c.860G>A	6	p.Arg287Gln	MH2	[4]
20	c.862_871 + 1dup	6	p.Arg292Aspfs∗53	MH2	[4]
21	c.887T>C	7	p.Leu296Pro	MH2	[11]
22	c.1045G>C	8	p.Ala349Pro	MH2	[3]
23	c.1080dupT	8	p.Glu361∗	MH2	[3]
24	c.1102C>T	8	p.Arg368∗	MH2	[4]
25	c.1170_1179del	9	p.Ser391Alafs∗7	MH2	[12]
26	c.1179_1180dupC	9	p.Cys394Leufs∗4	MH2	[4]
27	c.1208C>T	9	p.Pro403Leu	MH2	[6]
28	c.1259G>A	9	p.Arg420His	MH2	[7]
29	c.1267A>G	9	p.Ser423Gly	MH2	[4]

The SMAD3 reference sequence used was NM_005902.3, in which the A of the ATG translation initiation codon was nucleotide 1.