From: The identification of mitochondrial DNA variants in glioblastoma multiforme
 |  |  | Percentage change in variant (%) |  |  |  | MutPred | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Reference position | Reference | Variant | 03-965 | 04-273 | 05-470 | 07-104 | 07-445 | 07-635 | 08-012 | 08-026 | 09-005 | 09-152 | 16-1 | 22-1 | 20-1 | Gene region | Amino acid change | SNPs & GO | Probability of deleterious mutation | Top 5 predicted features caused by amino acid mutation |
4646 | T | C | Â | Â | Â | Â | Â | Â | Â | Â | 3.4 | Â | Â | Â | Â | ND2 | Syn (Y) | - | Â | Â |
4701 | A | T | Â | Â | Â | 4.8 | Â | Â | Â | Â | Â | Â | Â | Â | Â | N78Y | Neutral, RI 7, Uniprot P03891 | 0.329 | Â | |
4703 | T | C | Â | Â | Â | 4.8 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Syn (N) | - | Â | Â | |
4878 | G | A | Â | Â | Â | Â | Â | Â | Â | Â | 4.6 | Â | Â | Â | Â | A137T | Neutral, RI 5 | 0.786 | Â | |
4879 | C | G | Â | Â | Â | Â | Â | Â | Â | Â | 5.0 | Â | Â | Â | Â | A137G | Neutral, RI 5 | 0.78 | Loss of stability (P = 0.0465) | |
6146 | A | G | Â | Â | Â | Â | Â | Â | Â | Â | 3.1 | Â | Â | Â | Â | COX I | Syn (W) | - | Â | Â |
8497 | A | G | Â | 12.5 | Â | Â | Â | Â | Â | Â | 4.8 | Â | Â | Â | Â | ATP8 | Syn (M) | - | Â | Â |
8630 | A | G | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | 3.7 | Â | Â | ATP6 | K35 Stop | Uniprot P00846 | Â | Â |
8756 | T | C | Â | Â | Â | Â | Â | Â | Â | 6.5 | Â | Â | Â | Â | Â | I77T | Neutral, RI 5 | 0.684 | Loss of stability (P = 0.0062) | |
8790 | G | A | Â | Â | Â | Â | 18.4 | Â | Â | Â | Â | Â | Â | Â | Â | Syn (L) | - | Â | Â | |
8994 | G | A | Â | Â | Â | Â | Â | Â | Â | 4.7 | Â | Â | Â | Â | Â | Syn (L) | - | Â | Â | |
9070 | T | G | Â | Â | Â | Â | Â | Â | Â | Â | 6.2 | Â | Â | Â | Â | S182A | Neutral RI 5 | 0.162 | Loss of glycosylation at S182 (P = 0.0094) | |
9258 | C | T | Â | Â | Â | Â | 3.2 | Â | Â | Â | Â | Â | Â | Â | Â | COX III | Syn (L) | - | Â | Â |
9526 | C | G | Â | 5.0 | Â | Â | Â | 3.8 | Â | Â | Â | Â | Â | Â | Â | A107G | Neutral, RI 5, Uniprot P00414 | 0.667 | Loss of stability (P = 0.0332) | |
9528 | C | A | Â | 9.9 | 6.4 | Â | Â | Â | 4.8 | Â | Â | Â | Â | Â | Â | P108T | Neutral, RI 2 | 0.731 | Â | |
9558 | C | A | Â | Â | Â | Â | 5.8 | Â | Â | 3.6 | Â | Â | Â | Â | Â | P118T | Disease, RI 3 | 0.579 | Loss of catalytic residue at P117 (P = 0.0195) | |
Gain of glycosylation at P118 (P = 0.0283) | ||||||||||||||||||||
10398 | A | G | Â | Â | 5.4 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | ND3 | T114A | Neutral, RI 10, Uniprot P03897 | 0.071 | Â |
10993 | G | A | Â | Â | 4.6 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | ND4 | Syn (M) | - | Â | Â |
11332 | C | T | Â | Â | Â | Â | Â | Â | Â | Â | 3.4 | Â | Â | Â | Â | Syn (A) | - | Â | Â | |
11467 | A | G | Â | Â | Â | Â | Â | Â | Â | Â | 3.1 | Â | Â | Â | Â | Syn (L) | - | Â | Â | |
11516 | C | A | Â | Â | Â | Â | Â | Â | 4.9 | Â | Â | Â | Â | Â | Â | L253M | Neutral, RI 7, Uniprot P03905 | 0.369 | Â | |
11725 | A | T | Â | Â | Â | Â | Â | Â | 3.0 | Â | Â | Â | Â | Â | Â | Syn (T) | - | Â | Â | |
11791 | C | T | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | 11.8 | Â | Â | Syn (L) | Â | Â | Â | |
12719 | T | C | 3.2 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | ND5 | M128T | Disease, RI 2, Uniprot P03915 | 0.795 | Loss of stability (P = 0.0126) |
12774 | C | T | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | 9.3 | Â | Â | Syn (G) | Â | Â | Â | |
13984 | C | T | Â | Â | Â | Â | Â | Â | Â | Â | Â | 3.7 | Â | Â | Â | Syn (L) | - | Â | Â | |
13985 | T | C | Â | Â | 3.1 | Â | Â | Â | Â | Â | 3.1 | 3.7 | Â | Â | Â | L550P | Neutral, RI 1 | 0.457 | Gain of loop (P = 0.0013) | |
Loss of helix (P = 0.0041) | ||||||||||||||||||||
Gain of catalytic residue at P549 (P = 0.0244) | ||||||||||||||||||||
Gain of glycosylation at L550 (P = 0.0364) | ||||||||||||||||||||
Gain of relative solvent accessibility (P = 0.0479) | ||||||||||||||||||||
14155 | C | T | Â | Â | Â | Â | Â | Â | Â | Â | Â | 3.8 | Â | Â | Â | ND6 | Syn (G) | - | Â | Â |
14159 | C | G | Â | Â | Â | Â | Â | Â | 12.5 | Â | Â | Â | Â | Â | Â | R172P | Disease, RI 3, Uniprot P03923 | 0.423 | Loss of methylation at R172 (P = 0.0305) | |
14160 | G | C | Â | Â | Â | Â | 8.1 | Â | 12.5 | Â | Â | Â | Â | Â | Â | R172G | Neutral, RI 2 | 0.442 | Loss of methylation at R172 (P = 0.0305) | |
14770 | C | A | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | 8.0 | Â | CYT B | N8K | Neutral RI 1, Uniprot P00156 | 0.446 | Gain of methylation at N8 (P = 0.0039) |
Gain of MoRF binding (P = 0.0159) | ||||||||||||||||||||
Gain of ubiquitination at N8 (P = 0.0452) | ||||||||||||||||||||
14823 | A | C | Â | Â | Â | Â | 4.0 | Â | Â | Â | Â | Â | Â | Â | Â | N26T | Disease, RI 6 | 0.752 | Â | |
14857 | T | C | Â | Â | Â | Â | Â | Â | 3.8 | Â | Â | Â | Â | Â | Â | Syn (L) | - | Â | Â | |
14861 | G | T | Â | Â | Â | Â | Â | Â | 3.6 | Â | Â | Â | Â | Â | Â | A39S | Neutral, RI 5 | 0.33 | Â | |
14866 | C | T | Â | Â | Â | Â | Â | Â | Â | Â | 5.4 | Â | Â | Â | Â | Syn (C ) | - | Â | Â | |
15287 | T | C | Â | Â | Â | Â | 26.9 | Â | Â | Â | Â | Â | Â | Â | Â | F181L | Neutral, RI 3 | 0.617 | Â | |
15452 | C | A | Â | Â | 3.2 | Â | Â | Â | Â | Â | Â | Â | Â | Â | Â | L236I | Neutral, RI 7 | 0.307 | Â | |
15579 | A | T | Â | Â | Â | Â | Â | 3.7 | Â | Â | Â | Â | Â | Â | Â | Y278F | Disease, RI 6 | 0.796 | Â | |
15693 | T | C | Â | Â | Â | Â | Â | Â | Â | Â | 4.9 | Â | Â | Â | Â | Â | M316T | Neutral, RI 8 | 0.312 | Â |