NMO ON My RRMS
nt change aa change Protein 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20
4989 C>T Gln Stop ND2           +/- +/-                          
5932 C>G Thr 10 Stop CYT1           +/- +/-                          
6893 C>G Ser 329 Stop CYT1           +/- +/-                          
6901 A>G Lys 332 Stop CYT1             +/-                          
8528 T>G Met 1 Stop ATP6                               +/-        
15462 T>A Leu Stop CYT-b           +/+                            
Table 1: Features of Nonsense Mutation Identified in the Study not Previously Described in Literature. +/- occurrence of mutation in heteroplasmic conditions while +/+ in homoplasmic. NMO: neuromyelitis optica, RRMS: relapsing-remitting multiple sclerosis, ON: optic neuritis, My:myelitis. ND2: NADH dehydrogenase subunit 2, CYT1: cytochrome c oxidase subunit I, ATP6: ATP synthase F0 subunit 6, CYT-b: cytochrome b.