Table 2.

AK2 missense variants detected in MTN-001 participants.

A total of seven previously unreported AK2 missense variants were detected in seven heterozygous MTN-001 participants for the coding DNA reference sequence NM_001625.3. The functional consequence of resulting amino acid mutations were predicted using SIFT and PolyPhen in silico tools. A SIFT score < 0.05 was suggestive of a damaging amino acid substitution and > 0.05 a tolerated substitution. A PolyPhen score > 0.908 was suggestive of a probably damaging, 0.447–0.908 a possibly damaging, or < 0.447 a benign amino acid substitution. Deleterious and probably damaging AK2 missense variants was observed at a frequency of 2% (3/142 individuals).

Study site	Ethnicity	AK2 variant (ref. > alt.)	cDNA position	Coding DNA sequence position	Protein position	Amino acid (ref. > alt.)	Exon	SIFT prediction	PolyPhen prediction
USA	African American	A > G	249	166	56	S > P	2/6	Deleterious (0.02)	Probably damaging (0.95)
USA	European American	T > C	451	368	123	D > G	4/6	Deleterious (0)	Possibly damaging (0.452)
SA	African	A > G	511	428	143	L > P	5/6	Deleterious (0)	Probably damaging (1)
SA	African	G > A	516	433	145	H > Y	5/6	Deleterious (0)	Probably damaging (1)
USA	African American	A > G	583	500	167	I > T	6/6	Deleterious (0.03)	Possibly damaging (0.632)
UGA	African	T > A	622	539	180	E > V	6/6	Tolerated (0.27)	Benign (0.009)
UGA	African	G > T	743	660	220	F > L	6/6	Tolerated (0.08)	Benign (0.079)