. 2012 Oct 29;7:83. doi: 10.1186/1750-1172-7-83

Table 4.

Reported pathogenic mutations in theSLC52A3gene

*A Reported pathogenic mutations in theSLC52A3gene*
Mutation	Type	Exon	Coding effect	Reference (first report)
c.49T>C	Missense	2	p.Trp17Arg	Bosch et al. [3]
c.62A>G	Missense	2	p.Asn21Ser	Dezfouli et al. [13]
c.82C>A	Missense	2	p.Pro28Thr	Johnson [20]
c.106G>A¹	Missense	2	p.Glu36Lys	Green et al. [4]
c.160G>A	Missense	2	p.Gly54Arg	Johnson [9]
c.173T>A	Missense	2	p.Val58Asp	Ciccolella et al. [6]
c.211G>A	Missense	2	p.Glu71Lys	Johnson. [20]
c.211G>T	Nonsense	2	p.Glu71X	Green et al. [4]
c.224T>C	Missense	2	p.Ile75Thr	Johnson [9]
c.394C>T	Missense	2	p.Arg132Trp	Green et al. [4]
c.568-19_-18insCTGATTGAC	Insertion	2i	Unknown	Ciccolella et al. [6]
c.639C>G	Nonsense	3	p.Tyr213X	Green et al. [4]
c.659C>A	Missense	3	p.Pro220His	Dezfouli et al. [13]
c.670T>C	Missense	3	p.Phe224Leu	Green et al. [4]
c.796C>T	Missense	3	p.Arg266Trp	Ciccolella et al. [6]
c.935C>T	Missense	3	p.Ala312Val	Dezfouli et al. [13]
c.955C>T	Missense	3	p.Pro319Ser	Ciccolella et al. [6]
c.989G>T	Missense	3	p.Gly330Val	Koy et al. [7]
c.1048T>A	Missense	3	p.Leu350Met	Green et al. [4]
c.1325_1326delTG	Deletion	5	p.Leu442ArgfsX64	Green et al. [4]
c.1198-2A>C	Splice defect	4i	Unknown	Bosch et al. [3]
c.1371C>G	Missense	5	p.Phe457Leu	Green et al. [4]
c.1296C>A	Nonsense	5	p.Cys432X	Ciccolella et al. [6]
c.1237T>C¹	Missense	5	p.Val413Ala	Green et al. [4]
c.1238T>C	Missense	5	p.Val413Ala	Ciccolella et al. [6]
*B Reported pathogenic mutations in theSLC52A2gene*
c.368T>C	Missense		p.Leu123Pro	Haack et al. [8]
c.419C>T²	Missense		p.Pro140Leu	Johnson et al. [9]
c.916G>A²	Missense		p.Gly306Arg	Johnson et al. [9]
c.1016T>C	Nonsense		p.Leu339Pro	Haack et al. [8]

¹ c.106G>A and c.1237T>C are in cis. c.106G>A is predicted to be deleterious; c.1237T>C is predicted to be tolerated (Green et al. [4]).

² c.419C>T is reported in cis with pathogenic mutation c.916G>A and is possibly non-pathogenic (Johnson et al. [9]).