|
OPA1 mutations in OPA1-positive ADOA patients |
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| Patient |
Gene Mutation |
Exon |
Protein Change |
Protein Domain |
|
|
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| P2a |
c.239A>G |
2 |
Tyr80Cys |
Mt targeting |
| c.2883A>Cb |
28 |
Stop961Tyr |
Coiled-coiled |
|
| P3 |
c.2522A>G |
25 |
Tyr841Cys |
C-terminal |
| P4 |
c.2780T>A |
27 |
Leu927Stopc |
Coiled-coil |
| P6 |
c.1654delT |
17 |
Trp552fsc |
Dynamin |
| P7 |
c.1929delC |
20 |
Thr643fsc |
Dynamin |
| P8 |
c.2708delTTAG |
27 |
Val903fsc |
Coiled-coil |
|
aCompound heterozygote. bResults in a 3 amino acid C-terminal extension. cMutations in OPA1 result in protein truncation at the amino acid shown. | ||||
Mayorov et al. BMC Biochemistry 2008 9:22 doi:10.1186/1471-2091-9-22 |
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