Table 1 Molecular features of 36... | American Society of Hematology

Table 1

Molecular features of 36 patients with SCID

Patient no.*	Mutated gene	Gene mutation†	Protein mutation
1a	IL2RG	c.441-444delACTG	K147fs
1b	IL2RG	c.441-444delACTG	K147fs
2a	IL2RG	c.677G > A	R226H
2b	IL2RG	c.677G > A	R226H
3	IL2RG	c.803G > A	G268D
4	IL2RG	c.545G > A	C182Y
5	IL2RG	c.854G > A	R285Q
6	IL2RG	c.1A > G	M1V
7	IL2RG	c.664C > T	R222C
8	IL2RG	c.865C > T	R289X
9	IL2RG	c.676C > T	R226C
10	IL2RG	c.695G > T	G232V
11a	IL2RG	c.17T > A	L6X
11b	IL2RG	c.17T > A	L6X
12	IL2RG	c.676C > T	R226C
13	IL2RG	c.823delA	S275fs
14	IL2RG	c.709T > C	W237R
15	IL2RG	c.115 + 1G > T	Splicing defect
16	IL2RG	c.809T > G	M270S
17	IL2RG	c.273C > A	Y91X
18	IL2RG	c.insA729	I244fs
19	IL2RG	c.670C > T	R224W
20	IL2RG	c.816_820delGATT	I273fs
21a	JAK3	c.[2351 + 1g > t]; c.[2351 + 1 g > t]	Splicing defect
21b	JAK3	c.[2351 + 1g > t]; c.[2351 + 1 g > t]	Splicing defect
22	JAK3	c.[1428C > T]; c.[1428C > T]	R445X
23	IL2RG	c.insA18	P7fs
24	IL2RG	c.677G > A	R226H
25	IL7R	c.644G > T	G215V
26	IL7R	c.[898_902delCCTGA];c.[539A > C]	P300fs;H180P
27	CD3D	c.202C > T	R68X
28	RAG1	c.[1303A > G];c.[3016A > G]	M435V;M1006V
29	RAG1	g.[9.5Mb del];c.[1303A > G]	M435V
30	IL2RG	c.266A > G	Y89C
31	JAK3	c.[578G > A];c.[1786 + 3G > T]	C193Y; splicing defect
32	JAK3	c.[578G > A];c.[1786 + 3G > T]	C193Y; splicing defect

Patient no.*	Mutated gene	Gene mutation†	Protein mutation
1a	IL2RG	c.441-444delACTG	K147fs
1b	IL2RG	c.441-444delACTG	K147fs
2a	IL2RG	c.677G > A	R226H
2b	IL2RG	c.677G > A	R226H
3	IL2RG	c.803G > A	G268D
4	IL2RG	c.545G > A	C182Y
5	IL2RG	c.854G > A	R285Q
6	IL2RG	c.1A > G	M1V
7	IL2RG	c.664C > T	R222C
8	IL2RG	c.865C > T	R289X
9	IL2RG	c.676C > T	R226C
10	IL2RG	c.695G > T	G232V
11a	IL2RG	c.17T > A	L6X
11b	IL2RG	c.17T > A	L6X
12	IL2RG	c.676C > T	R226C
13	IL2RG	c.823delA	S275fs
14	IL2RG	c.709T > C	W237R
15	IL2RG	c.115 + 1G > T	Splicing defect
16	IL2RG	c.809T > G	M270S
17	IL2RG	c.273C > A	Y91X
18	IL2RG	c.insA729	I244fs
19	IL2RG	c.670C > T	R224W
20	IL2RG	c.816_820delGATT	I273fs
21a	JAK3	c.[2351 + 1g > t]; c.[2351 + 1 g > t]	Splicing defect
21b	JAK3	c.[2351 + 1g > t]; c.[2351 + 1 g > t]	Splicing defect
22	JAK3	c.[1428C > T]; c.[1428C > T]	R445X
23	IL2RG	c.insA18	P7fs
24	IL2RG	c.677G > A	R226H
25	IL7R	c.644G > T	G215V
26	IL7R	c.[898_902delCCTGA];c.[539A > C]	P300fs;H180P
27	CD3D	c.202C > T	R68X
28	RAG1	c.[1303A > G];c.[3016A > G]	M435V;M1006V
29	RAG1	g.[9.5Mb del];c.[1303A > G]	M435V
30	IL2RG	c.266A > G	Y89C
31	JAK3	c.[578G > A];c.[1786 + 3G > T]	C193Y; splicing defect
32	JAK3	c.[578G > A];c.[1786 + 3G > T]	C193Y; splicing defect

Patients 1a and 1b, 2a and 2b, 11a and 11b, and 20a and 20b, respectively, are siblings.

†

The position of the mutation is relative to the first nucleotide corresponding to the “A” in the initiating ATG codon that encodes the first amino acid (ie, methionine) of the protein.

View Large

This Feature Is Available To Subscribers Only