Table 4 Reported pathogenic mutations in the SLC52A3 gene

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 the SLC52A2 gene

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]