Table 2. Previously unreported AK2 missense variants detected in clinical trial participants located in Bangkok, Thailand, Cape Town, South Africa, and New York City, USA.

Geographic Location	Variant (ref.>alt.)	cDNA Position	Coding DNA Sequence Position	Protein Position	Amino Acid Substitution (ref.>alt.)	SIFT Prediction	PolyPhen Prediction
Bangkok	T>C	699	616	206	I>V	tolerated(0.38)	benign(0.063)
Cape Town	G>A	106	23	8	A>V	tolerated(0.27)	benign(0.002)
Cape Town	T>C	166	83	28	K>R	deleterious(0)	possibly_damaging(0.693)
Cape Town	G>A	247	164	55	A>V	deleterious(0)	possibly_damaging(0.774)
Cape Town	C>T	258	175	59	E>K	tolerated(0.29)	benign(0.01)
Cape Town	C>T	312	229	77	E>K	deleterious(0.01)	possibly_damaging(0.656)
New York City	A>C	139	56	19	V>G	deleterious(0)	possibly_damaging(0.882)
New York City	C>T	237	154	52	A>T	deleterious(0.01)	possibly_damaging(0.859)
New York City	T>C	267	184	62	K>E	tolerated(0.59)	benign(0.134)
New York City	C>T	546	463	155	E>K	tolerated(0.59)	benign(0.187)
New York City	G>A	664	581	194	T>I	deleterious(0)	probably_damaging(0.997)
New York City	T>C	699	616	206	I>V	tolerated(0.38)	benign(0.063)
New York City	T>A	699	616	206	I>F	deleterious(0.03)	benign(0.288)

Twelve previously unreported genetic missense variants were detected in 11 individuals out of 505 individuals sequenced for the coding DNA reference sequence NM_001625.3. All individuals that had detectable variants were heterozygous for those variants. One individual from Cape Town had two detectable missense variants and one individual from New York City had two detectable missense variants. Across the three geographic locations where individuals were sequenced for AK2, one AK2 variant was found in both Bangkok and New York City but not in Cape Town.