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Table 1 List of TGM6 mutations reported in SCA35 patients

From: A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

Genomic position

Nucleotide change

Amino acid change

Exon

Type

RefSNP

gnomAD MAF

SCA35 carriers

TG6 activity (functional studies)

Clinical features

Mean age at onset (years)

 

Study reference

20:2398091

c.1550T>G

p.L517W

10

Missense

rs387907097

0.0001

9

Reduced (in vitro)

Gait ataxia

Spasmodic

torticollis

Cerebellar dysarthria

Intentional tremor

Dysmetria

Pyramidal signs (hyperreflexia, Babinski sign)

44

 

[2]

20:2381081

c.980A>G

p.D327G

7

Missense

rs387907098

9.6 × 10−5

2

Reduced (in vitro)

Gait ataxia

Cerebellar dysarthria

Intentional tremor

Eye movements disturbances (slowness)

41

 

[2]

20:2398069

c.1528G>C

p.D510H

10

Missense

rs201964784

0.0001

5

Reduced (in vitro)

Gait ataxia

Dysmetria

Pyramidal signs (hyperreflexia, Babinski sign)

Postural and intentional tremor

Delayed speech development

Mental retardation

Cognitive impairment

Cerebellar dysarthria

Numbness in the extremities

Eye movements disturbances (limited extraocular movements, dysmetric saccades)

Impaired proprioception

20

 

[3, 6]

20:2375989

c.331C>T

p.R111C

3

Missense

rs372250159

2.5 × 10−5

2

Reduced (in vitro and in vivo)

Gait ataxia

Limb ataxia

Cerebellar dysarthria

Tremor

Eye movements disturbances (saccade/pursuit aberrations)

Pyramidal signs (hyperreflexia)

23

 

[3]

20:2411135_2411137

c.1722_1724delAGA

p.E574del

11

Deletion

NA

4.0 × 10− 6

1

Reduced (in vitro)

Gait ataxia

Cerebellar dysarthria

Limb ataxia

Tremor

Nystagmus

Eye movements disturbances (saccade/pursuit aberrations)

Pyramidal signs (hyperreflexia)

56

 

[3]

20:2377270

c.543G>T

p.Q181H

4

Missense

NA

NA

1

Reduced (in vitro)

Gait ataxia

Myoclonus

Epilepsy

19

 

[8]

20:2384304

c.1171G>A

p.V391M

9

Missense

rs116904482

0.0008

1

Reduced (in vitro)

Gait ataxia

Extrapyramidal signs

Dystonia

36

 

[8]

20:2384455

c.1322A>G

p.Y441C

9

Missense

rs138950659

1.2 × 10−5

1

Reduced (in vitro)

Gait ataxia

Pyramidal signs (spasticity)

Cerebellar dysarthria

Dysphagia

54

 

[8]

20:2397883

c.1342C>T

p.R448W

9

Missense

rs147979536

0.015

1

Not reduced (in vitro)

Gait ataxia

20

 

[8]

20:2398046

c.1505T>A

p.L502Q

10

Missense

NA

7.1 × 10−6

1

Not reduced (in vitro)

Ataxia

> 50

 

[8]

20:2411658_2411660

c.1951_1952insAAC

p.Q652dup

12

Duplication

NA

0.0013

1

Not reduced (in vitro)

Gait ataxia

Myoclonus

NA

 

[8]

20:2375947

c.288_290delC

p.L97*

3

Frameshift

NA

1.1 × 10−4

1

NA

Postural and intentional tremor

Cerebellar dysarthria

Dystonia

Dysmetria

Gait ataxia

Pyramidal signs (hyperreflexia, Babinski sign)

35

 

[10]

20:2361622

c.7+1G>T

Splice site change

1

Splicing

NA

1.4 × 10− 4

2

NA

Gait ataxia

Cerebellar dysarthria

Tremor

57

 

[5]

20:2398019

c.1478C>T

p.P493L

10

Missense

NA

8.0 × 10− 5

1

NA

Gait ataxia

Cerebellar dysarthria

Tremor

Cognitive impairment

60

 

[5]

20:2380376

c.841delC

p.L281*

6

Frameshift

NA

NA

1

NA

Gait ataxia

Cerebellar dysarthria

Extrapyramidal signs

Dysmetria

Pyramidal signs (hyperreflexia)

40

 

[9]

20:2384077

c.1024C>T

p.R342W

8

Missense

rs150566697

0.0002

1

Reduced (in vitro)

Gait ataxia

Cerebellar dysarthria

Eye movements disturbances (ocular dysmetria, slow saccades)

Pyramidal signs (hyperreflexia, Babinski sign, ankle clonus)

54

 

Current study

  1. *truncated protein