TABLE 3.

Allele frequency and functional prediction of MECP2 missense mutations identified in this study.

Mutation at cDNA position	Mutation at protein position	dbSNP No.	Taiwan Biobank	GMAF	ExAC	SIFT Score	PolyPhen2 Score
c.590 C > T	T197M	rs61749714	0.001745	0.0003	0.00055	0.12 Tolerated	0.008 Benign
c.602 C > T	A201V	rs61748381	0.01	0.0048	0.00154	0.21 Tolerated	0.002 Benign
c.637 C > G	L213V	rs782473355	0.0003		0.00001	1 Tolerated	0.001 Benign
c.1072 G > A	A358T	rs147017239	0.0009	0.0003	0.00027	0.75 Tolerated	0.000 Benign
c.1126 C > T	P376S	rs61752387	0.0048	0.0003	0.00086	0.11 Tolerated	0.000 Benign
c.1255 C > T	P419S	rs140258520	0		0.00005	0.17 Tolerated	0.025 Benign
c.1255 C > G	P419R		0			0.3 Tolerated	0.025 Benign

GMAF, Global minor allele frequency. The Exome Aggregation Consortium (ExAC).