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 |