Table 1.

Mutations reported in the SLC19A3 gene.

	Disorder	Amino acid change	Nucleotide change	Mutation type	Exon/Intron
1	Leigh syndrome	p.Ser7*	c.20C>A	Nonsense	Exon 1
2	Basal ganglia disease, biotin‐responsive	p.Gly23Val	c.68G>T	Missense	Exon 1
3	Encephalopathy	p.Ser31Pro	c.91T>C	Missense	Exon 1
4	Wernicke's‐like encephalopathy	p.Lys44Glu	c.130A>G	Missense	Exon 1
5	Leigh syndrome	p.Ile51Met	c.153A>G	Missense	Exon 2
6	Encephalopathy,	p. Asn53Asp	c.157A>G	Missense	Exon 2
7	Leigh syndrome	p. Ser89Arg	c.265A>C	Missense	Exon 2
8	Basal ganglia disease, biotin‐responsive	p. Trp94Arg	c.280T>C	Missense	Exon 2
9
10	Encephalopathy	p.Tyr113His	c.337T>C	Missense	Exon 2
11	Leigh syndrome	p.Tyr124*	c.372C>G	Nonsense	Exon 2
12	Basal ganglia disease, biotin‐responsive	p.Val139Glu	c.416T>A	Missense	Exon 2
13	Basal ganglia disease, biotin‐responsive	p.Ser155Leu	c.464C>T	Missense	Exon 2
14	Encephalopathy	p.Tyr169*	c.507C>G	Nonsense	Exon 2
15	Basal ganglia disease, biotin‐responsive	p.Asn173Asp	c.517A>G	Missense	Exon 2
16	Encephalopathy	p.Ser176Tyr	c.527C>A	Missense	Exon 2
17	Encephalopathy	p.Ser181Pro	c.541T>C	Missense	Exon2
18	Alcohol dependence	p.Arg205Gly	c.613A>G	Missense	Exon 2
19	Basal ganglia disease, biotin‐responsive	p.Thr289Ala	c.865A>G	Missense	Exon 2
20	Wernicke's‐like encephalopathy	p.Glu320Gln	c.958G>C	Missense	Exon 2
21	Encephalopathy	p.Leu385Arg	c.1154T>G	Missense	Exon 3
22	Basal ganglia disease, biotin‐responsive	p.Asn399Ile	c.1196A>T	Missense	Exon 4
23	Basal ganglia disease, biotin‐responsive	p.Thr422Ala	c.1264A>G	Missense	Exon 4
24	Encephalopathy	p.Ser444Arg	c.1332C>G	Missense	Exon 5
25	Basal ganglia disease, biotin‐responsive	p.?	c.980‐14A>G	Splice site	Intron 3
26	Encephalopathy,	p.Ser168del	c.503_505delCGT	Small deletion	Exon 2
27	Encephalopathy	p.Asn173Thrfs*35	c.516delC	Small deletion	Exon 2
28	Encephalopathy	p.?	c.980‐4delT	Small deletion	Exon 2
29	Leigh syndrome	p.Ala328Leufs*10	c.982delG	Small deletion	Exon 3
30	Basal ganglia disease, biotin‐responsive	p.?	c.74dupT	Duplication	Exon 1
31	Thiamine transporter dysfunction syndrome	p.?	c.81_82dupGA	Duplication	Exon 1
32	Leigh‐like syndrome	p.?	c.191dupT	Duplication	Exon 2
33	Encephalopathy	p.?	c.1079dupT	Duplication	Exon 3
34	Encephalopathy	p.?	~45 kb incl. promoter region	Large deletion	Exon 1
35	Basal ganglia disease, biotin‐responsive	p.?	4175 bp incl. ex. 5	Large deletion	Exon 5
36	Basal ganglia disease, biotin‐responsive	p.?	4808 bp incl. ex. 1 in promoter region	Large deletion	Exon 1
37	Encephalopathy	p.?	c.895_925del31	Large deletion	Exon 2
38	Encephalopathy	p.Arg358*	Exon 5 deletion	Large deletion	Exon 5