Table 1 Mutations in ITPR1 in 21 individuals with SCA29 reported in our cohort

p.T267 M

IP3

c.800C > T

2 Sporadic

[4]

p.R269W

IP3

c.805C > T

de novo

[10]

p.R269G

IP3

c.805C > G

de novo

p.S277I

IP3

c.830G > T

de novo

[4, 6]

p.K279E

IP3

c.835A > G

de novo

p.K417_

K418ins

IP3

c.1252-1G > T

de novo

p.N602D

Coupling/Reg

c.1804A > G

Inherited

[3, 5]

p.T1386 M

Coupling/Reg

c.4157C > T

de novo

p.V1553 M

Coupling/Reg

c.4657G > A

Inherited

[2, 3, 7]

p.G2506R

Transmembrane

c.7516G > A

1 de novo; 1 Inherited

p.I2550T

Transmembrane

c.7649 T > C

2 Sporadic

p.K2563del

Transmembrane

c.7687_7689del

de novo

[20, 21]