Table 2.

DPYS variants reported in in vitro analysis.

dbSNP rsID	Location	Nucleotide Change	Amino Acid Substitution	Expression System	Substrates	Effect	References
rs199618701	Exon 1	17G > A	R6Q	293FT	FUH2	120% of CLint ratio	[83]
rs57732538	Exon 1	19C > G	L7V	293FT RKO E. coli	FUH2UH2UH2	116% of CLint ratio 65% of wild-type DHP No function	[83] [82] [76]
rs572241599	Exon 1	48C > G	N16K	293FT	FUH2	No function	[83]
–	Exon 1	203C > G	T68R	293FT COS-7	FUH25-bromo-UH2	No function 1.5% of wild-type DHP	[83] [17]
rs370718225	Exon 1	209T > C	M70T	293FT E. coli	FUH2UH2	No function No function	[83] [76]
–	Exon 1	242A > G	D81G	293FT E. coli	FUH2UH2	No function No function	[83] [76]
–	Exon 2	349T > C	W117R	293FT	FUH2	44% of CLint ratio	[83]
rs36027551	Exon 3	541C > T	R181W	293FT RKO	FUH2UH2	110% of CLint ratio 99% of wild-type DHP	[83] [82]
rs751371011	Exon 4	750G > A	M250I	HEK293	UH2	2% of wild-type DHP	[77]
–	Exon 5	833G > A	G278D	293FT E. coli	FUH2UH2	No function No function	[83] [21]
–	Exon 5	884A > G	H295R	HEK293	UH2	9.8% of wild-type DHP	[77]
rs200913682	Exon 5	905G > A	R302Q	293FT E. coli	FUH2UH2	No function 3.9% of wild-type DHP	[83] [76]
rs121964923	Exon 6	1001A > G	Q334R	293FT HEK293 COS-7	FUH2UH25-bromo-UH2	20% of CLint ratio 9.7% of wild-type DHP 2.5% of wild-type DHP	[83] [77] [17]
rs530911437	Exon 6	1010T > C	L337P	293FT E. coli	FUH2UH2	No function No function	[83] [76]
rs201457190	Exon 6	1027A > G	T343A	293FT E. coli	FUH2UH2	43% of CLint ratio 49% of wild-type DHP	[83] [76]
rs121964924	Exon 6	1078T > C	W360R	293FT E. coli E. coli COS-7	FUH2UH2UH25-bromo-UH2	No function No function No function 1.2% of wild-type DHP	[83] [71] [76] [17]
rs138282507	Exon 6	1090G > A	V364M	293FT E. coli	FUH2UH2	8% of CLint ratio No function	[83] [76]
rs201258823	Exon 7	1137C > A	S379R	293FT E. coli	FUH2UH2	No function 0.20–.9% of wild-type DHP	[83] [76]
rs267606774	Exon 7	1235G > T	R412M	293FT E. coli	FUH2UH2	36% of CLint ratio No function	[83] [71]
–	Exon 8	1253C > T	T418I	HEK293	UH2	64% of wild-type DHP	[77]
rs267606773	Exon 8	1303G > A	G435R	293FT COS-7	FUH25-bromo-UH2	No function 5.1% of wild-type DHP	[83] [17]
rs201280871	Exon 8	1393C > T	R465X	293FT E. coli	FUH2UH2	No function No function	[83] [76]
rs61758444	Exon 8	1423C > T	R475X	293FT E. coli	FUH2UH2	No function 0.2–0.9% of wild-type DHP	[83] [76]
rs142574766	Exon 9	1468C > T	R490C	293FT E. coli COS-7	FUH2UH25-bromo-UH2	No function 0.2–0.9% of wild-type DHP 1.7% of wild-type DHP	[83] [76] [17]
Rs189448963	Exon 9	1469G > A	R490H	HEK293	UH2	0.3% of wild-type DHP	[77]