Table 1.
CPD in mitochondrially encoded Complex I proteins. Variants that are considered in details below are shown in bold.
| Gene | Nucleotide mutation | Amino acid mutation | Associated disease | Clades with CPD (class) | Number of substitutions to pathogenic AA on a tree |
|---|---|---|---|---|---|
| ND1 | m.3481G > A | E59K | MELAS, Progressive Encephalopathy | 4 mites (Arachnida) | 1 |
| m.3688G > A | A128T | LS | 1 butterfly (Insecta) | 1 | |
| m.3697G > A | G131S | MELAS |
5 parasitic flatworms (Cestoda) 2 mites (Arachnida) 1 beetle (Insecta) |
3 | |
| m.3890G > A | R195Q | LS, LHON | 1 amphibian (Amphibia) | 1 | |
| m.3946G > A | E214K | MELAS |
5 bony fishes (Actinopterygii) 2 insects (Insecta) |
6 | |
| ND2 | m.4681 T > C | L71P | LS | 1 bird (Aves) | 1 |
| ND3 | m.10158 T > C | S34P | LS |
3 hexapods (Entognatha) 1 sea spider (Pycnogonida) 1 turtle (Reptilia) |
4 |
| m.10197G > A | A47T | LS, DYT, LDYT |
5 insects (Insecta) 3 spiders (Arachnida) 23 cephalopods (Cephalopoda) 3 turtles (Reptilia) |
8 | |
| ND5 | m.13063G > A | V243I | LS | 1 spider (Arachnida) | 1 |
| ND6 | m.14487 T > C | M63V | LS, DYT | 1 insect (Insecta) | 1 |
| m.14600G > A | P25L | LS with sensorineural deafness | 1 insect (Insecta) | 1 |
MELAS—Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; LS—Leigh Syndrome; LHON—Leber's hereditary optic neuropathy; DYT – dystonia; LDYT—Leber's disease and dystonia.