| |
|
|
|
|
|
NMO |
ON |
My |
RRMS |
| Variant ID |
nt change |
aa change |
Type |
Interaction domain |
Associated disease |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
9 |
10 |
11 |
12 |
13 |
14 |
15 |
16 |
17 |
18 |
19 |
20 |
| rs1599988 |
4216 T>C |
Tyr304His |
mis |
- |
NMO, LHON |
|
|
|
+/+ |
|
|
|
|
|
|
|
|
+/+ |
|
|
|
|
|
|
|
| rs28357980 |
4917 A>G |
Asn150Asp |
mis |
- |
NMO, LHON |
|
|
|
|
|
|
|
+/+ |
|
|
|
|
|
|
+/+ |
|
|
|
|
|
| rs3021088 |
5460 G>A |
- |
syn |
- |
AD,PD |
|
|
|
|
|
|
+/- |
|
|
|
+/- |
|
|
|
|
|
|
|
|
|
| rs28358270 |
9123 G>A |
- |
syn |
TFBS (FOXC1) |
DM CNS |
|
|
|
|
+/+ |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| rs28575684 |
9647 T>A |
- |
syn |
miRNA |
MS |
|
|
|
|
|
+/- |
+/- |
|
|
|
|
|
|
|
|
|
|
|
|
|
| rs2854122 |
12705 C>T |
- |
syn |
TFBS (ETS1) |
MS, DM |
|
+/+ |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| rs28359178 |
13708 G>A |
Ala>Thr |
mis |
- |
MS, LHON, AD, PD |
|
|
|
+/+ |
|
|
|
|
|
|
|
|
+/- |
+/+ |
|
|
|
|
|
|
| rs41509754 |
13965 C>T |
- |
syn |
- |
MS |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
+/+ |
|
|
|
|
|
| rs41518645 |
15257 G>A |
Asp171Asn |
mis |
- |
LHON |
|
|
|
+/+ |
|
|
|
|
|
|
|
|
+/+ |
+/+ |
|
|
|
|
|
|
| rs3094280 |
15663 A>G |
Ile>Val |
mis |
TFBS (ETS1) |
MS, DM |
|
|
|
+/+ |
|
|
|
|
|
|
|
|
|
+/+ |
|
|
|
|
|
|
|
| Table 2: Features of Known Mitochondrial Variants Identified in the Study. +/- indicates the occurrence of mutation in heteroplasmic conditions while +/+ in homoplasmic
conditions. RRMS: relapsing-remitting multiple sclerosis, NMO: neuromyelitis optica, ON: optic neuritis, My:myelitis, LHON: Leber’s hereditary optical neuropathy, AD:
Alzheimer’s disease, PD: Parkinson’s disease, MS: Multiple sclerosis, DM: demyelinating disease. ND1: NADH dehydrogenase subunit 1, ND2: NADH dehydrogenase
subunit 2, ATP6: ATP synthase F0 subunit 6, CYC: cytochrome c oxidase subunit III, ND5: NADH dehydrogenase subunit 5, CYT-b: cytochrome b; mis: missense; syn:
synonymous. |
