Table 1.

Summary of the mutations identified in the human SHP gene (NR0B2).

Region	Nucleotide change	Protein change (codon affected)	Protein Activity	Designation	References
Promoter	Pro-423C>T		unknown		Zhou et al., 2010
	Pro-394C>T		unknown		Cao and Hegele, 2002 Hung et al., 2003
	Pro-195delCTGA		unknown		Cao and Hegele, 2002 Hung et al., 2003
Exon1	c.65C>T	p.Y22Y	normal		Echwald et al., 2004
	c.100C>T	p.R34X	reduced	a)b)c)d)e)	Nishigori et al., 2001 Enya et al., 2008
	c.100C>G	p.R34G	normal		Hung et al., 2003 Echwald et al., 2004
		p.R36C	unknown		Hung et al., 2003
	c.112C>T	p.R38C	normal		Enya et al., 2008
	c.113G>A	p.R38H	normal		Zhou et al., 2010
	c.134G>C	p.R45P	normal		Enya et al., 2008
	c.157_166del	p.His53AlafsX50	reduced	a)b)c)e)	Nishigori et al., 2001 Enya et al., 2008
	c.160C>T	p.R54C	reduced		Enya et al., 2008
	c.169C>T	p.R57W	reduced	a)	Nishigori et al., 2001 Enya et al., 2008
	c.278G>T	p.G93D	reduced	a)	Echwald et al., 2004
	c.292_300delinsAC	p.L98fsdel9insAC	reduced	a)c)e)	Nishigori et al., 2001 Enya et al., 2008
	c.314T>G	p.V105G	reduced	c)	Enya et al., 2008
	c.339G>A	p.P133P	normal		Echwald et al., 2004
	c.415C>A	p.P139H	normal		Echwald et al., 2004
	c.510A>T	p.K170N	reduced		Zhou et al., 2010
	c.512G>C	p.G171A	normal		Cao and Hegele, 2002 Hung et al., 2003 Mitchell et al., 2003 Echwald et al., 2004 Enya et al., 2008 Zhou et al., 2010
	c.532G>A	p.D178N	normal		Enya et al., 2008
Intron	Intron1265T>A		unknown		Zhou et al., 2010
Exon2	c.566G>A	p.G189E	reduced	a)	Nishigori et al., 2001 Enya et al., 2008
	c.583G>T	p.A195S	reduced	a)c)d)e)	Nishigori et al., 2001 Enya et al., 2008
	c.618G>A	p.W206X	reduced		Enya et al., 2008
	c.637C>T	p.R213C	reduced	a)b)c)e)	Nishigori et al., 2001 Enya et al., 2008
	c.647G>A	p.R216H	normal		Nishigori et al., 2001 Enya et al., 2008
	c.903C>T		unknown		Cao and Hegele, 2002
3’UTR	3’UTR101C>G		unknown		Zhou et al., 2010
	3’UTR186T>C		unknown		Zhou et al., 2010

Mutation nomenclature was numbered based on GenBank cDNA NM_021969.2 and protein NM_068804.1 sequences.

In open reading frame (ORF) of the coding region, nucleotide +1 corresponds to the A of the ATG start codon.

In intron region, nucleotide +1 corresponds to the 1st nucleotide of intron.

In 3’UTR region, nucleotide +1 corresponds to the 1st nucleotide downstream of the stop codon.

In 5’UTR and promoter region, nucleotide −1 corresponds to the 1st nucleotide upstream of the start codon.

^a)early-onset obesity,

^b)high birth weight,

^c)diabetes,

^d)fatty liver,

^e)decreased insulin sensitivity (Nishigori et al., 2001)