Table 3.

UPB1 variants identified in β-UP deficient patients.

db SNP rsID	Location	Nucleotide Change	Amino Acid Substitution	Expression System	Substrates	Effect	References
–	Exon 1	c.38T > C	p.L13S	E. coli	bUPA	6% of wild-type β-UP	[95]
rs200145797	Exon 1	c.91G > A	p.G31S	HEK293	bUPA	52% of wild-type β-UP	[97]
rs121908066	Exon 2	c.209G > C	p.R70P	No reports of in vitro study			[98]
rs34035085	Exon 2	c.254C > A	p.A85E	E. coli RKO	bUPA bUPA	No function 2.7% of wild-type β-UP	[93] [101]
–	Exon 6	c.703G > A	p.G235R	E. coli	bUPA	No function	[95]
rs144135211	Exon 6	c.706C > T	p.R236W	E. coli	bUPA	No function	[95]
rs145766755	Exon 7	c.792C > A	p.S264R	E. coli	bUPA	20% of wild-type β-UP	[95]
–	Exon 7	c.811G > A	p.E271K	HEK293	bUPA	0.7% of wild-type β-UP	[97]
–	Exon 7	c.851G > T	p.C284F	No reports of in vitro study			[99]
rs1375840064	Exon 7	c.853G > A	p.A285T	No reports of in vitro study			[99]
–	Exon 7	c.857T > C	p.I286T	HEK293	bUPA	70% of wild-type β-UP	[97]
rs118163237	Exon 9	c.977G > A	p.R326Q	E. coli HEK293	bUPA bUPA	No function 1.3% of wild-type β-UP	[95] [97]
rs369879221	Exon 10	c.1076C > T	p.T359M	E. coli	bUPA	No function	[95]