UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population

Table 2

Common and rare variants identified in cases and controls and in silico analysis.

Number	ID	Rare variants	Exon	Genotype (Ref/Alt)	TA repeat (n/n)	Common variants	Genotype (Ref/Alt)	STB (mg/dL)	In silico analysis of mutations
									PolyPhen-2	SIFT	Mutation Taster
Cases
				(1)	37	p.Ala61	1	G/A	6/5	-	-	23.27	B	T	P
(2)	28	p.His300	2	A/G	6/5	-	-	14.81	PD	D	DC
(3)	44	-	-	-	6/7	p.Gly71Arg	G/A	20.74	-	-	-
						p.Pro229Gln	C/A
(4)	72	p.Ile47=	1	C/T	6/5	-	-	18.12	-	D	-
(5)	76	p.Arg336Trp	3	C/T	6/7	p.Gly71Arg	G/A	15.10	PD	D	DC
(6)	77	p.Pro364Leu	4	C/T	6/5	-	-	26.98	PD	D	DC
(7)	43							17.44
(8)	11	p.His487Tyr	5	C/T	6/5	-	-	20.59	PD	D	P
(9)	86							19.55
(10)	33	p.Pro451Leu	5	C/T	6/5	-	-	25.77	PD	D	DC
(11)	79	p.Tyr486Asp	5	T/G	6/5	-	-	18.26	PD	D
(12)	178	p.Lys407	4	G/T	6/6	p.Gly71Arg	G/A	19.38	PS	D	P
(13)		p.Tyr514	5	T/A					PS	D	P
Controls
			(1)	200	p.Tyr79	1	C/G	6/7	-	-	6.99	-	D	-
(2)	101	p.Ala346	4	C/T	6/6	-	-	12.81	PD	D	P
(3)	263	p.Thr412	4	A/T	6/6	-	-	13.75	B	T	P
(4)	232	p.His487Tyr	5	C/T	6/7	-	-	6.8	PD	D	P

Ref: reference allele; Alt: alternative allele. variant. B: benign, PD: probably damaging, PS: possibly damaging, T: tolerated, D: damaging, P: polymorphism, DC: disease causing, and STB: serum total bilirubin.