Table 1.

UCP2 Mutations Found in 5 Children With Diazoxide-Responsive HI

Case	Nucleotide	Amino Acid	Population Frequency (%)		In Silico Prediction	Pi/Asp Exchange Rate (mmol/min/g protein) (n = 4; mean ± SD)
			Total	African
1	c.803 C>G	p.Ala268Glya	0.16	1.5	Damaging	0.85 ± 0.11 (P = 0.0001)
2, 5	c.181 G>A	p.Gly61Ser	0.01	0.10	Damaging	1.57 ± 0.25 (P = 0.0012)
3	c.140 G>A	p.Ser47Asn	0.03	0.31	Tolerated	2.27 ± 0.41 (P = 0.0295)
4	c.816-2 A>G	N/A	0.0	0.00	Damaging	N/A
						Wild-type: 3.2 ± 0.51

Abbreviations: N/A, not applicable; SD, standard deviation.

^aPreviously reported in a child with HI (3).