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Table 3 All variants detected in our ion channel gene panel from 7 cases with FTN

From: MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response

Family and Patient No.

Genes

Mutations

In silico analysis

Nucleotide

Amino acid

Domain

GERP

SIFT

Polyphen2

PhyloP

CADD

Family1 Patient II-1, II-2, II-3

MARS1

c.2398C > A

p.P800T

Anticodon binding

5.06

0.01

0.866

6.685

32

Family1 Patient II-2, II-3

POLG

c.1235C > T

p.P412L

Mitochondrial DNA polymerase

5.55

0.00

0.998

9.624

34

Family1 Patient II-1

SH3TC2

c.2939G > T

p.C980F

Protein expressed

5.37

0.00

0.905

4.868

25.3

Family1 Patient II-1

ACVRL1

c.663G > T

p.W221C

Cell-surface receptor

4.85

0.00

0.997

9.998

33

Family2 Patient II-1, II-2

AMACR

c.844G > C

p.E282Q

Mitochondrial and peroxisomal enzyme

5.7

0.10

0.858

7.611

25.6

Family2 Patient II-1

COL4A1

c.125 A > G

p.H42R

Collagen type IV

3.97

0.37

0.067

2.209

19.57

Family2 Patient II-2

MFN2

c.2162 T > C

p.I721T

Mitofusins

5.28

0.04

0.517

5.949

24.7

Family3 Patient I-1

MARS1

c.2104C > T

p.R702W

Anticodon binding

4.39

0.00

0.997

5.081

7.63

Family3 Patient I-1

SCN10A

c.2161C > T

p.P721S

Ion transport domain

4.19

0.00

0.999

9.55

6.16

Family3 Patient I-1

PINK1

c.C736C > T

p.R246X

threonine protein kinase

5.75

0.00

0.999

6.55

6.79