Table 1.
Premature termination mutations in the POLG gene and associated disease.
| Amino Acid Substitution | DNA mutation | Disease | Genetics | Reference |
|---|---|---|---|---|
| Q68X | 202 c→t (exon 2) | Alpers | Found in trans with A467T | (Wong et al., 2008) |
| W235X | 705 g→a (exon 3) | Myocerebrohepato-pathy syndrome | Found in trans with A467T | (de Vries et al., 2006) |
| T326fsX387 | 975–976 ins c (exon 4) | Alpers | Found in trans with A467T | (Naimi et al., 2006) |
| R374X | 1120 c→t (exon 5) | Alpers | Found in trans with A467T. | (Ashley et al., 2008) |
| L424GfsX28 (CT)deletion-452X | 1270–1271 del ct (exon 7) | Alpers | Found in trans with A467T | (Wong et al., 2008) |
| PEO | Sporadic Found in trans with G431V | (Agostino et al., 2003) | ||
| T452X | 1356 t→g (exon 7) | PEO | Sporadic | (Hudson et al., 2006) |
| R709X | 2125 c→t (exon 12) | PEO | Sporadic, Found in trans with T251I–P587L | (Del Bo et al., 2003; Di Fonzo et al., 2003) |
| Q715X | 2143 c→t (exon 12) | Alpers | Found in trans with A467T | (Wong et al., 2008) |
| c. 2157+5_+6 | 2157 gc→ ag (exon 12) | Alpers | Found in trans with A467T | (Wong et al., 2008) |
| 2354Gins at G785 | 2354 ins G STOP @ codon 806 (exon 14) | arPEO | Found in trans with T251I | (Lamantea et al., 2002) |
| c. 2480+1 | 2480+1 g→a splice (exon 15) | Alpers | Found in trans with W748S–E1143G | (Wong et al., 2008) |
| IVS15-9-c.2485del 12bp | 2485 del 12bp (exon 16) | Alpers | Found in trans with A467T. Splice site mutation 3'exon15/intron junction, | (Horvath et al., 2006) |
| E873X | 2617 g→t (exon 17) | Alpers | Found in trans with A467T | (Ashley et al., 2008; Chan et al., 2005b; Naviaux and Nguyen, 2004; Naviaux and Nguyen, 2005) |
| L965X | 2894 t→g (exon 18) | arPEO | Found in cis with E1143G and in trans with R627Q–Q1236H | (Horvath et al., 2006) |
| W1020X | 3057 g→a (exon 19) | Alpers | Found in trans with A467T | (Nguyen et al., 2005) |
| 3482 +2T to C | 3482 +2t’s splice at intron 21 (exon 21) | Alpers | Exon21/Intron21 splice site mutation at a.a. 1161. Found in trans with A467T | (Ferrari et al., 2005; Horvath et al., 2006) |
| L1173fsX | 3518 ins gact, fs in exon 22 (exon 22) | Alpers | Found in trans with A467T | (Nguyen et al., 2006) |
| Y1210fs1216X | 3630 ins c (exon 22) | Alpers | Found in trans with W748S–E1143G, Mutation causes frameshift to stop at a.a. 1225 | (Ferrari et al., 2005; Spinazzola et al., 2009) |