Table 1.

GNE mutations associated with HIBM

#	Nucleotide substitution	Amino acid substitution	GNE exon	Ethnicity	Protein domain	Refs
1	c.C31T	p.R11W	2	India	Epimerase	[33]
2	c.G38C	p.C13S	2	Japan, Korea	Epimerase	[24, 27]
3	c.79C>T	p.P27S	2	Italy	Epimerase	[28]
4	c.86T>C	p.M29T	2	Korea	Epimerase	[27]
5	c.107C>T	p.P36L	2	Italy	Epimerase	[21]
6	ins10 bp	Frameshift*	2	Japan	Epimerase	[5]
7	c.265G>C	p.G89R	3	Thailand	Epimerase	[10]
8	c.386G>A	p.R129Q	3	Japan, Korea	Epimerase	[24, 27]
9	c.396C>G	p.H132Q	3	Japan	Epimerase	[5]
10	c.404G>T	p.G135V	3	USA, Irish, English	Epimerase	[30]
11	c.484C>T	p.R162C	3	Italy	Epimerase	[71]
12	c.511A>G	p.M171V	3	Italy	Epimerase	[23]
13	c.578A>T	p.D176V	3	Japan	Epimerase	[5, 24]
14	c.529C>T	p.R177C	3	Japan	Epimerase	[5]
15	c.598A>T	p.I200F	3	USA	Epimerase	[21]
16	c.605G>T	p.R202L	3	Greece	Epimerase	[33]
17	c.616G>A	p.G206S	3	Italy	Epimerase	[28]
18	c.617delG	p.G206fsX4	3	Italy	Epimerase	[28]
19	c.647T>C	p.V216A	4	USA	Epimerase	[33, 72]
20	c.673G>A	p.D225N	4	Bahamas	Epimerase	[19]
21	c.722T>G	p.I241S	4	Taiwan	Epimerase	[29, 73]
22	c.736C>T	p.R246W	4	USA	Epimerase	[22, 30]
23	c.737G>A	p.R246Q	4	Bahamas, Italy, Taiwan	Epimerase	[19, 28, 29]
24	IVS4+4A>G	Exon 4 skipping	Intron 4	Japan	Epimerase	[5]
25	c.829C>T	p.R277C	5	France	Epimerase	[32]
26	c.847C>T	p.P283S	5	Japan	Epimerase	[24]
27	c.907–908TG>GT	p.C303V	5	Japan	Epimerase	[25]
28	c.909T>A	p.C303X	5	India	Epimerase	[19]
29	c.917G>A	p.R306Q	5	Japan	Epimerase	[5]
30	c.992T>C	p.V331A	6	Japan	Epimerase	[5]
31	c.1003C>T	p.R335W	6	USA	Epimerase	[74]
32	c.1039_1042 delCTGCinsA	p.L347del; H348N	6	USA	Epimerase	[74]
33	IVS6+2dupT (c.1070+2dupT)	p.352fsX15; p.Y355_C357del	6	Italian	Epimerase	[28]
34	c.1099G>A	p.V367I	7	Iran	Epimerase	[75]
35	c.1130delT	p.I377fsX16	7	Italian	Epimerase	[28]
36	c.1183G>T	p.D378Y	7	USA, Japan, Ireland	Epimerase**	[5, 21]
37	c.1136T>A	p.L379H	7	Tunesia	Epimerase?**	[76]
38	c.1258C>T	p.R420X	7	Japan	Kinase	[24]
36	c.1262T>C	p.V421A	7	Japan	Kinase	[24]
37	c.1295delA	p.K432fsX17	8	India	Kinase	[77]
38	c.1379C>T	p.A460V	8	Japan	Kinase	[26]
39	c.1415T>C	p.I472T	9	Japan	Kinase	[5, 78]
40	c.1532C>A	p.P511H	9	Japan	Kinase	[31]
41	c.1532C>T	p.P511L	9	Thailand	Kinase	[10]
42	c.1539G>A	p.W513X	9	Taiwan	Kinase	[73]
43	c.1556A>G	p.N519S	9	Italy	Kinase	[28]
44	c.1571C>T	p.A524V	9	Thailand, Mexico, South America, France	Kinase	[10, 22, 32]
45	c.1583T>G	p.F528C	9	Germany	Kinase	[21]
46	c.1670T>C	p.I557T	10	Italy, Japan	Kinase	[21, 24]
47	c.1675G>C	p.G559R	10	Greece	Kinase	[33]
48	c.1714G>C	p.V572L	10	Japan, Korea, Asian	Kinase	[25–27]
49	c.1727G>A	p.G576E	10	USA	Kinase	[19]
50	c.1760T>C	p.I587T	10	USA, Italy, Algeria	Kinase	[21, 32]
51	c.1771G>A	p.A591T	10	Korea	Kinase	[27]
52	c.1798G>A	p.A600T	10	Italy	Kinase	[28]
53	c.1888G>A	p.A630T	11	Japan	Kinase	[5]
54	c.1891G>A	p.A631T	11	USA, Senegal	Kinase	[19, 32]
55	c.1892C>T	p.A631V	11	Germany, Ireland, Japan, USA	Kinase	[5, 21, 25, 72]
56	c.1967T>A	p.I656N	11	Thailand	Kinase	[10]
57	c.2023T>C	p.Y675H	12	Mexico, South America	Kinase	[22]
58	c.2036T>G	p.V679G	12	France	Kinase	[32]
59	c.2086G>A	p.V696M	12	Thailand, India, Algeria	Kinase	[10, 19, 32, 33]
60	c.2122G>A	p.G708S	12	Japan	Kinase	[24]
61	c.2135T>C	p.M712T	12	Persian Jewish	Kinase	[19, 22–24, 76]
62	del ex3-ex9 (>35.7kb)	Large deletion	3–9	Italy	Epimerase + Kinase	[71]

^*Gray background; severe mutations, likely resulting in nonsense mediated RNA decay and limited GNE/MNK protein expression.

^**GNE/MNK amino acid residues 1–378 are suggested to regulate epimerase enzymatic activity, and residues 410–722 regulate kinase enzymatic activity [38].