TABLE 1.

Correlation between age of onset among patients with 0, 1 or 2 above missense mutations and structural effect.

Predicted structural effects	Mutations	Numbers of mutations	N a	Age of onset(years)	Variable	P
substantial effect	eIF2Bε[Arg195His]	1–2	13	0.8(0.3–34)	13.08	<0.001
		2	6	0.7(0.3–0.9)	Ha = 3.63	<0.001
					Hb = 0.09	>0.05
		1	7	4.5(0.3–34.0)	Hc = 0.41	>0.05
		0	290	3.6(0–62.0)
substantial effect	eIF2Bε[Arg269Gln]	1–2	9	1.2(0.7–4.5)	2.77	<0.01
		2	2	(1.2–1.6)
		1	7	1.1(0.7–4.5)	Hd = 2.34	<0.05
		0	294	3.7(0–62.0)
small effect	eIF2Bβ[Glu213Gly]	1–2	22	5.5(1.5–17.0)	1.84	>0.05
		2	17	5.0(1.5–17.0)
		1	5	7.0(1.7–17.0)
		0	281	3.5(0–62.0)
small effect	eIF2Bβ[Gly200Val]	1	7	1.7(0.3–22.0)	0.94	>0.05
		0	296	3.6(0–62.0)
small effect	eIF2Bε[Thr91Ala]	1–2	5	2.0(1.5–3.0)	0.11	>0.05
		0	298	3.6(0–62.0)
small effect	eIF2Bγ[Ala87Val]	1–2	10	29.0(2.1–61.0)	2.68	<0.01
		2	6	26.5(2.1–61.0)
		1	4	38.5(2.3–57.0)
		0	293	3.5(0–62.0)

^a N: number of patients with 0, 1 or 2 missense mutations; H _a : people carried two eIF2Bε[Arg195His] compared with those without eIF2Bε[Arg195His] mutation; H _b : people carried two eIF2Bε[Arg195His] compared with those carried one eIF2Bε[Arg195His] mutation; H _c : people carried one eIF2Bε[Arg195His] compared with those without eIF2Bε[Arg195His] mutation. H _d : people carried one eIF2Bε[Arg269Gln] compared with those without eIF2Bε[Arg269Gln] mutation.