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Table 1 OPA1 mutations in OPA1-positive ADOA patients

From: Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

Patient

Gene Mutation

Exon

Protein Change

Protein Domain

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

  1. aCompound heterozygote.
  2. bResults in a 3 amino acid C-terminal extension.
  3. cMutations in OPA1 result in protein truncation at the amino acid shown.
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BMC Biochemistry

ISSN: 1471-2091

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