. Author manuscript; available in PMC: 2022 Feb 11.

Published in final edited form as: Biochem Soc Trans. 2017 Apr 15;45(2):401–408. doi: 10.1042/BST20160165

Table 1:

EOGT and Notch pathway mutations in AOS patients.

Gene	Type of mutation	Mutation	References
*EOGT*	Missense	W207S, R377Q	[25]
*EOGT*	Frameshift	G359 Dfs*28	[25, 26]
*NOTCH1*	Deletion	85kb deletion spanning the promoter region and exon 1	[29]
	Missense	P407R, C429R, R448Q, C449R, C456Y, C1374R, C1496Y, A1740S, D1989N	[29, 30]
	Frameshift	Y550,M1580lfs30, S2017Tfs*9	[30]
	Nonsense	E1555*	[30]
*DLL4*	Missense	A121P, R186C, F195L, P267T, C390R/Y, C455W	[31]
*DLL4*	Nonsense	Q554, R558	[31]
*RBPJ*	Missense	Z63G, K169Z	[32]