Table 2.

All purported pathogenic EFHC1 exonic mutations, the corresponding amino acid change, and the populations where the mutation has been seen

EFHC1 allele	Mex	Hon	Jap	YRI	ASW	PUR	TSI	His	AA	Cau	His	AA	Cau
	JME (reported)			1,000 Genomes				NYC patients			NYC controls
P77T	+			+	+	+					+	+
D210N	+
R221H	+			+	+	+					+	+
F229L	+						+			+
D253Y	+
T252K	+
V264fsx280	+
Q277X		+
T580R			+

His = New York Hispanic; AA = New York black/African American; Cau = New York Caucasian, all from this current study.