. Author manuscript; available in PMC: 2023 Aug 1.

Published in final edited form as: Hum Mutat. 2021 Dec 2;43(8):1097–1113. doi: 10.1002/humu.24302

Table 3.

Functional domains eligible for PM1 criteria.

Gene	Reference	Location	Functional domain used for PM1
MECP2	NP_004983.1	p.Asp90_Arg162	Methyl-DNA binding [MDB]
MECP2	NP_004983.1	p.Pro302_Arg306	Transcriptional repression domain [TRD]
UBE3A	NP_570853.1	p.Cys820	3’ cysteine binding site
CDKL5	NP_003150.1	p.Val19_Lys43	ATP binding region
	NP_001310218.1	p.Val19_Lys43	ATP binding region
	NP_003150.1	p.Thr169_Tyr171	TEY phosphorylation site
	NP_001310218.1	p.Thr169_Tyr171	TEY phosphorylation site
FOXG1	NP_005240.3	p.Lys181_Arg275	Forkhead domain
TCF4	NP_001077431.1	p.Glu564_Val617	basic Helix-Loop-Helix domain [bHLH]