Table 1

Summary of known ENG mutations

No	Location	Type	Nucleotide change	Consequence	Refs
Mutations as described in original* article are in parentheses.
D, deletion; Ex, exon; I, insertion; InDel, insertion+deletion; Int, intron; M, missense; N, nonsense; Sp, splice site.
1	Ex 1	M	c.1A→G	p.M1V	27
2	Ex 1	M	c.2T→C	p.M1T	28, 29
3	Ex 1	M	c.2T→G	p.M1R	30
4	Ex 1	M	c.23T→C	p.L8P	30
5	Ex1	D	c.63delC	p.T22fs	31, 32
6	Int 1	Sp	c.67+1G→A	Ex 1 skip, p.M1fs	27, 33
7	Int 1	Sp	c.68G→A (c.68–1G→A)*	Ex 2 del, p.S23fs	34*
8	Int 1	D	c.68_219del	Ex 2 skip, p.S23fs	34, 35
9	Ex 2	N	c.90T→A	p.C30X	36
10	Ex 2	M	c.95T→G	p.L32R	37
11	Ex 2	D	c.115delA	p.R39fs	35
12	Ex 2	N	c.121G→T	p.E41X	35
13	Ex 2	N	c.142C→T	p.Q48X	27
14	Ex 2	M	c.145G→T	p.V49F	30
15	Ex 2	M	c.155G→T	p.G52V	29, 38
16	Ex 2	M	c.155G→A	p.G52D	37
17	Ex 2	M	c.157T→C	p.C53R	16, 28, 29, 38
18	Ex 2	N	c.159C→A (c.157C→A)*	p.C53X	27*
19	Ex 2	I	c.195_196insT	p.H65fs	30
20	Int 2	Sp	c.219+5G→A	Ex 2 skip, p.S23fs	35
21	Ex 3	N	c.229C→T	p.Q77X	32
22	Ex 3	N	c.247C→T	p.Q83X	27
23	Ex 3	I	c.258–276insCAAAATGGCACCTGGCCC	p.K85_Q86insQNGTWP	39
24	Ex 3	N	c.277C→T	p.R93X (p.R83X)*	27, 28, 39*
25	Ex 3	M	c.320T→G	p.L107R	30
26	Ex 3	D	c.332_338delCCCTGGG	p.A111fs	27
27	Ex 3	N	c.360C→A	p.Y120X	39
28	Int 3	Sp	c.360+1G→A	Ex 3 skip, p.G74_Y120del	16, 27, 28, 35, 40
29	Int 3	Sp	c.360+1G→C	Ex 3 skip, p.G74_Y120del	2
30	Int 3	Sp	c.360+4A→G	Ex 3 skip, p.G74_Y120del	34
31	Int 3	Sp	c.360+5G→A	splice defect	27
32	Int 3	Sp	c.361–2A→G	splice defect	34, 39
33	Ex 4	M	c.374T→A	p.V125D	37
34	Ex 4	M	c.447G→C	p.W149C	29, 41
35	Ex 4	D	c.461delG	p.G154fs	30
36	Ex 4	M	c.479C→A	p.A160D	37, 42
37	Ex 4	M	c.494C→T	p.P165L	35
38	Ex 4	D	c.496delC	p.Q166fs	30
39	Ex 4	I	c.497_498insC	p.Q166fs	27
40	Ex 4	N	c.511C→T	p.R171X	30, 32, 34, 36, 43
41	Ex 4	Sp	c.523G→C, c.361_523del	Ex 4 skip, p.N121fs	35
42	Int 4	Sp	c.524–2A→G	Ex 4 skip, pN121fs	29
43	Int 4	D	c.524_689del	Ex 5 del, p.A175fs	35
44	Ex 5	I	c.562_563insC	p.Q188fs	35
45	Ex 5	D	c.576_596del21bp	p.R192_P198del	34
46	Ex 5	I	c.577_578insGC	p.T193fs	27
47	Ex 5	M	c.581T→C	p.L194P	35
48	Ex 5	I	c.580_581insACGC	p.L194fs	28
49	Ex 5	D	c.586_604delTGGCGGCCGCGTACTCCAG	p.W196fs	31
50	Ex 5	M	c.586T→C	p.W196R	16
51	Ex 5	N	c.587G→A	p.W196X	28, 44
52	Ex 5	N	c.588G→A	p.W196X	35
53	Ex 5	D	c.591_619del29bp	p.P198fs	32
54	Ex 5	I	c.596_597insCG	p.R199fs	16
55	Ex 5	D	c.619_621delTGC	p.C207del	30
56	Ex 5	D	c.640_643delGGCC	p.G214fs	16
57	Ex 5	D	c.657_658delCA	p.I220fs	45
58	Ex 5	M	c.662T→C	p.L221P	38
59	Ex 5	D	c.682_686delTCGGC	p.S228fs	46
60	Int 5	Sp	c.689+2T→C	Ex 6 skip, p.G230fs	27, 30
61	Int 5	Sp	c.689–2A→T	Ex 6 skip, p.G230fs	28
62	Ex 6	D	c.694_699delCGGACG	p.R232_T233del	30
63	Ex 6	I	c.701_702insACGG	p.V234fs	27
64	Ex 6	N	c.715G→T	p.E239X	31
65	Ex 6	D	c.733delG	p.G245fs	27
66	Ex 6	D	c.736delG	p.D246fs	35
67	Ex 6	I	c.766_767insC	p.P256fs	27
68	Ex 6	I	c.772_773insC	p.Y258fs	30
69	Ex 6	M	c.781T→C	p.W261R	27
70	Ex 6	N	c.782G→A	p.W261X	31, 37
71	Ex 6	D	c.785_789delTCATC	p.L262fs	30
72	Ex 6	D	c.787_789delATC	p.I263del	27, 30
73	Ex 6	M	c.788T→C	p.I263T	30
74	Ex 6	M	c.790G→A	p.D264N	27
75	Int 6	Indel	c.817_1134del;insTAAAC (g.IVS6+140_IVS8+20delTAACCins)*	p.T273_A378del	35*
76	Ex 7	InDel	c.820_826delACTGGAGinsTTGAAGGTCTTTCCAGAGAAAAAC	p.T274fs	28
77	Ex 7	I	c.828_829insA	p.Y277fs	2
78	Ex 7	N	c.831C→G	p.Y277X	24
79	Ex 7	D	c.882_920del39bp	p.T295_N307del	24
80	Ex 7	InDel	c.887_918del32bp;c.919_920 insCAAGCTCCCAG	p.Q297fs	27
81	Ex 7	D	c.893delG	p.G298fs	30
82	Ex 7	I	c.904_905insGG	p.E302fs	35
83	Ex 7	D	c.909_929del21bp	p.R304_I310del	32
84	Ex 7	M	c.917T→C	p.L306P	27, 29
85	Ex 7	M	c.932T→G	p.V311G	47
86	Ex 7	I	c.967_968insT	p.V323fs	34, 46
87	Ex 7	M	c.991G→A	p.G331S	27
88	Int 7	D	c.993–25_1120del152	p.G332fs	30
89	Ex 8	D	c.993_1134del	Ex 8del, p.G332fs	34
90	Ex 8	D	c.995delG	p.G332fs	27
91	Ex 8	I	c.1048_1049dupTT	p.T349fs	30
92	Ex 8	N	c.1050T→A	p.C350X	24, 44
93	Ex 8	N	c.1078C→T	p.Q360X	27
94	Ex 8	D	c.1078_1081delCAGA	p.G360fs	29
95	Ex 8	M	c.1088G→A	p.C363Y	37
96	Ex 8	D	c.1089_1090delTG	p.C363fs	28
97	Ex 8	I	c.1111_1112insG	p.V371fs	28, 40, 44
98	Ex 8	D	c.1111_1133del	p.V371fs	16, 30
99	Ex 8	I	c.1117_1118insT	p.K373fs	27
100	Ex 8	D	c.1120_1123delAAAG	p.K374fs	2
101	Ex 8	M	c.1121_1122AA→GC	p.K374S	27
102	Ex 8	I	c.1122_1123insA	p.E375fs	35
103	Ex 8	N	c.1123G→T	p.E375X	31
104	Int 8	Sp	c.1134G→A	splice defect, p.A378A	27
105	Int 8	Sp	c.1134+1G→A	Ex 8 skip, p.G332fs	34, 39
106	Int 8	Sp	c.1134+1G→C	Ex 8 skip, p.G332fs	31
107	Int 8	I	c.1134_1135ins220_1134	p.Ala378_His379insGly74_Ala378	34, 41
108	Int 8	D	c.1135_1977del	Ex 8–14del p.H379_A658del	34, 35
109	Ex 9a	I	c.1142_1143insT	p.K381fs	27
110	Ex 9a	M	c.1146C→G	p.C382W	16
111	Ex 9a	D	c.1165–1167delTTC	p.F389del	39
112	Ex 9a	D	c.1186delG	p.A396fs	28
113	Ex 9a	D	c.1195delA	p.R399fs	16
114	Ex 9a	D	c.1199delG	p.G400fs	30, 35
115	Ex 9a	D	c.1206delG	p.K402fs	29
116	Ex 9a	I	c.1213_1214ins11bp	p.L405fs	30
117	Ex 9a	M	c.1220G→A	p.S407N	37
118	Ex 9a	D	c.1231_1233delAGC	p.S411del	37
119	Ex 9a	M	c.1234T→A	p.C412S	30
120	Ex 9a	M	c.1238G→T	p.G413V	27, 33
121	Ex 9a	D	c.1255delA	p.S419fs	27
122	Ex 9a	D	c.1267delA	p.N423fs	29, 31
123	Ex 9b	Sp	c.1310delG	splice defect	27
124	Ex 9b	Sp	c.1311G→C	splice defect, p.R437R	29
125	Ex 9b	Sp	c.1311G→A	splice defect, p.R437R	27
126	Int 9b	Sp	c.1311+2T→A	Ex 9b skip, p.A425fs	28
127	Ex 10	I	c.1317_1318insA	p.V440fs	27
128	Ex 10	D	c.1334delT	p.M445fs	46
129	Ex 10	D	c.1346_1347delCT	p.S449fs	27, 30, 35
130	Ex 10	D	c.1347_1350delTTTC	p.F450fs	28
131	Ex 10	I	c.1361_1362insT	p.Y455fs	30
132	Ex 10	I	c.1392_1393insC	p.N465fs	30
133	Ex 10	D	c.1410delG	p.G470fs	30
134	Ex 10	N	c.1414C→T	p.Q472X	40, 44
135	Ex 10	InDel	c.1415_1417delAGAinsGT	p.Q472fs	28, 37
136	Ex 10	Sp	c.1428G→A	splice defect	30
137	Ex 11	D	c.1432_1433delAG	p.R478fs	29
138	Ex 11	D	c.1437_1438delGT	p.V479fs	27
139	Ex 11	N	c.1469T→G	p.L490X	30
140	Ex 11	I	c.1470_1471insA	p.D491fs	30, 31, 37
141	Ex 11	M	c.1510G→A	p.V504M	31, 39
142	Ex 11	M	c.1522C→T	p.Q508X	30
143	Ex 11	D	c.1550_1551delTG	p.V517fs	44
144	Ex 11	D	c.1553_1554delGC	p.S518fs	24
145	Ex 11	D	c.1609delT	p.Y537fs	30
146	Ex 11	N	c.1611C→A	p.Y537X	27
147	Ex 11	I	c.1623_1624insA	p.P542fs	30
148	Ex 11	D	c.1630delA	p.T544fs	31
149	Ex 11	D	c.1655delC	p.A552fs	29, 44
150	Ex 11	D	c.1672_1684delGGGTCTCAAGACC	p.G558fs	37
151	Ex 11	N	c.1678C→T(c.1778C→T)*	p.Q560X	27*
152	Ex 11	N	c.1684C→T	p.Q562X	27
153	Ex 12	D	c.1689_1699delAGTCCATAGGA	p.E563fs	37
154	Ex 12	N	c.1715T→A	p.L572X	37
155	Ex 12	Sp	c.1741_1742insTCTG	p.G581fs	31
Non-disease associated variants
	Ex 1	M	c.14C→T	p.T5M	31, 32, 34
	Ex 4	M	c.392C→T	p.P131L	27, 31, 35, 39
	Ex 5	M	c.572G→A	p.G191D	30, 31
	Ex 5	M	c.590G→A	p.R197Q	31
	Ex 8	M	c.1055C→T	p.P352L	32
	Ex 8	M	c.1096G→C	p.D366H	31, 32, 48
	Ex 13	M	c.1794T→G	p.I575T	32