Table 1.

Mutations reported for the human OXCT1 gene causing SCOT deficiency. Additional phenotype information can be found in the supplementary text

#	DNA change	Exon	Mutation site	Mutated residue	Protein change	Conservation	Reference
1a,c,d	c.112C > Tb	2	Arg38	Cys	p.R38C		(Alkén 2008)
2c	c.335T > Ab	4	Val112	Asp	p.V112D	Semi-Conserved	(Alkén 2008)
3	c.398T > A	4	Val133	Glu	p.V133E	Semi-Conserved	(Song et al 1998)
4	c.644C > T	6	Ala215	Val	p.A215V	Conserved	(Fukao et al 2011)
5	c.656G > A	6	Gly219	Glu	p.G219E	Conserved	(Fukao et al 2000)
6	c.661G > A	6	Val221	Met	p.V221M	Semi-Conserved	(Fukao et al 2000)
7	c.677G > A	7	Ser226	Asn	p.S226N	Semi-Conserved	(Fukao et al 2011)
8c	c.785C > G	8	Pro262	Arg	p.P262R	Conserved	Sass et al (unpublished)
9c	c.802C > T	8	Arg268	Cys	p.R268C	Conserved	Sass et al (unpublished)
10	c.803G > A	8	Arg268	His	p.R268H	Conserved	(Fukao et al 2007)
11	c.971G > A	10	Gly324	Glu	p.G324E	Conserved	(Fukao et al 2000)
12	c.980T > C	10	Leu327	Pro	p.L327P	Conserved	(Fukao et al 2011)
13†	c.1162A > Gb	12	Met388	Val	p.M388V	Conserved	(Alkén 2008)
14	c.1210G > T	13	Val404	Phe	p.V404F	Conserved	(Fukao et al 2011)
15	c.1213T > C	13	Ser405	Pro	p.S405P	Conserved	(Fukao et al 2011)
16†‡	b	14	Leu429	Phe	p.L429F	Conserved	(Alkén 2008)
17	c.1304C > A	14	Thr435	Asn	p.T435N	Conserved	(Fukao et al 2010; Fukao et al 2004)
18	c.1367G > T	15	Cys456	Phe	p.C456F	Conserved	(Song et al 1998)
19	c.1402C > T	15	Arg468	Cys	p.R468C	Low-conserved	(Fukao et al 2011)
Insertion, deletion, frameshift mutations
20	c.649C > T	6	Arg217	X	p.R217X	Semi-Conserved	(Longo et al 2004)
21	c.817G > T	8	Glu273	X	p.E273X	Variable	(Fukao et al 2011)
22	c.848C > G	9	Ser283	X	p.S283X	Conserved	(Yamada et al 2007)
23	c.658-666dup	6	Asn220-Ile222		p.N220-I222 dup	Conserved (Asn220), Semi-conserved (Val221,Ile222)	(Fukao et al 2010)
24	c.1561T > Cb	6	X521R	Arg	Adding 20 AAs		(Alkén 2008)

^aThe R38C mutation resides in the N-terminus of the protein that is disordered and not modelled in the crystal structure

^bDNA change in the R38C, V122D, M388V and X521R mutations are deduced from amino acid substitution. The DNA change in the L429F mutation is not reported and cannot be deduced from amino acid substitution

^cThese mutations have not been confirmed as pathogenic by expression analysis

^dR38C and L429F mutations coexisted in one mutant allele