UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach

BMC Medical Genetics

Table 3 Observed UGT1A1 coding variants.

3a
Individual	Chr. pos.	Exon	Gene pos.	AA pos.	SNP change	(TA) rpt	Type^a	original AA	new AA
MS003	234334120	1A	449	150	C → T	6/7	N/S	Threonine	Methionine
MS036	234333883	1A	211	71	G → A	6/6	N/S	Glycine	Arginine
MS057	234333883	1A	211	71	G → A	6/7	N/S	Glycine	Arginine
MS039	234334012	1A	341	114	A → G	7/7	N/S	Lysine	Arginine
MS081	234334211	1A	540	180	A → G	6/6	S	Glutamic Acid	Glutamic Acid
3b
Individual	Maternal ethnicity	GA	% wt loss ^b	Feeding method	Initial bilirubin	Initial risk zone ^c	Repeat bilirubin	Repeat risk zone ^c	Bilirubin increase (mg/dl per hr)	Required Phototherapy
MS003	Caucasian	37.0	6.4%	Breast	10.2	LI	16.9	High	0.29	Yes
MS036	Asian	37.0	7.7%	Breast	13.6	High	20.9	High	0.16	Yes
MS057	Asian	37.4	-0.4%	Bottle	12.5	LI	15.0	HI	0.16	No
MS039	Caucasian	39.4	3.1%	Bottle	11.3	HI	10.3	Low	-0.02	No
MS081	Caucasian	39.9	4.9%	Breast	12.2	HI	14.9	HI	0.10	No

Table 3a gives the molecular characteristics of the observed variables for each individual. Chromosome position (Chr. pos.), Gene position (Gene pos.) and amino acid (AA) position (pos.) are given with reference to dbSNP build 129. ^aN/S = non-synonymous substitution; S = synonymous substitution. Table 3b gives the associated clinical characteristics for each individual. ^bnegative percent weight loss (% wgt loss) is a gain of weight. ^cnomogram based risk zones; LI = low intermediate; HI = high intermediate.

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