Table 1 Schimke immuno-osseous dysplasia (SIOD) associated SMARCAL1 mutations tested

Pedigree number	Mutation (allele 1/allele 2)	Expression of SMARCAL1 in human cell culture			Overexpression of SMARCAL1 in Drosophila melanogaster
Pedigree number	Mutation (allele 1/allele 2)	Protein/mRNA	Relative ATPase activity	Subcellular localisation	Ectopic wing vein (WT = 70%)
Severe disease
49	c.1920–1921insG	0.1	–	–	–
	p.641fsX51		–	–	–
	c.2321C>A		–	–	–
	p.S774X		–	–	–
30	c.1132G>T	0.82	–	–	–
	p.E398X
	c.1132G>T
	p.E398X
23	c.2542G>T	0.02	–	–	–
23	p.E848X
50	c.2542G>T
50	p.E848X
22	c.2459G>A	1.7	0	Nuc/Cyt	0
	p.R820H
	c.2459G>A
	p.R820H
45	c.2459G>A	1.7	0	Nuc/Cyt	0
	p.R820H		0	Nuc/Cyt	0
	c.1874C>G		–	–	–
	p.S625X		–	–	–
51	c.2459G>A	–	0	Nuc/Cyt	0
	p.R820H		0	Nuc/Cyt	0
	c.2542G>T		–	–	–
	p.E848X		–	–	–
39	c.2114C>T	–	–	Nuc	2%
	p.T705I		–	Nuc	2%
	c.1402G>C		–	Cyt	0
	p.A468P		–	Cyt	0
53	c.2291G>A	–	–	Nuc	2.8%
	p.R764Q	–	–	Nuc	2.8%
	c.2542G>T	–	–	–	–
	p.E848X	–	–	–	–
35	c.1736C>T	–	–	Nuc	0
	p.S579L		–	Nuc	0
	c.2321C>A		–	–	–
	p.S774X		–	–	–
4	c.410delA	–	–	–	–
	p.Q137fsX3		–	–	–
	c.1930C>T		–	Cyt	3.3%
	p.R644W		–	Cyt	3.3%
48	c.1939A>C	2.0	15.2	Nuc	5.6%
	p.K647Q
	c.1939A>C
	p.K647Q
Mild disease
27	c.1940A>C	1.2	0.02	Nuc/Cyt	28.7%
	p.K647T
	c.1940A>C
	p.K647T
18	c.1756C>T	1.0	0	Nuc	15.5%
	p.R586W
	c.1756C>T
	p.R586W
16	c.1643T>A	0.1	1.78	Nuc	13.4%
	p.I548N			Nuc	13.4%
	c.1933C>T			Cyt	0
	p.R645C			Cyt	0