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LOVD - Variant listings for OPA1

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-/-? OPA1_00144 c.1+97G>A Substitution Intron 1 Basic (exons 1-3) - p.(=) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.1+97G>A 1 - - eOPA1 identifier (obsolete):OA_00154; Nucleotide change: G to A at 1+97 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers - 1
+/+? OPA1_00268 c.1-?_2983+?del Deletion Exon 1-29 Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - p.? Fuhrmann et al. (2009) SEQ DNA Blood - NM_015560.2:c.1-?_2818+?del 1-27 - - eOPA1 identifier (obsolete):OA_00282; Nucleotide change: Large deletion of exons 1-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Fuhrmann et al. (2009), France:Angers Phenotype inheritance: familial 1
+/+? OPA1_00270 c.1-?_3048+?del Deletion Exon 1-30 Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - p.? Fuhrmann et al. (2009) SEQ DNA Blood - NM_015560.2:c.1-?_2883+?del 1-28 - - eOPA1 identifier (obsolete):OA_00284; Nucleotide change: Complete deletion (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 28 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Fuhrmann et al. (2009), France:Angers Phenotype inheritance: familial 1
+/+? OPA1_00266 c.1-?_678+?del Deletion Exon 1-6 Basic (exons 1-3) - p.Met1? Fuhrmann et al. (2009) SEQ DNA Blood - NM_015560.2:c.1-?_624+?del 1-5 NP_056375.2:p.Met1? - eOPA1 identifier (obsolete):OA_00280; Nucleotide change: Deletion of exons 1-5 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Fuhrmann et al. (2009), France:Angers Phenotype inheritance: familial 1
-/-? OPA1_00147 c.15-33C>T Substitution Intron 1 Basic (exons 1-3) - p.(=) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.15-33C>T 1 - - eOPA1 identifier (obsolete):OA_00157; Nucleotide change: C to T at 15-33 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers - 1
+/+? OPA1_00117 c.22G>T Substitution Exon 1 Basic (exons 1-3) - p.(Ala8Ser) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.22G>T 1 NP_056375.1:p.(Ala8Ser) - eOPA1 identifier (obsolete):OA_00147; Nucleotide change: G to T at 22 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers Phenotype inheritance: familial 1
-/-? OPA1_00148 c.26+12T>G Substitution Intron 1 Basic (exons 1-3) - p.(=) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.26+12T>G 1 - - eOPA1 identifier (obsolete):OA_00158; Nucleotide change: T to G at 26+12 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers - 1
+/+? OPA1_00087 c.6G>A Substitution Exon 1 Basic (exons 1-3) - p.(Trp2*) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.6G>A 1 NP_056375.1:p.(Trp2*) - eOPA1 identifier (obsolete):OA_00096; Nucleotide change: G to A at 6 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers - 1
+?/? OPA1_00348 c.3G>A
    + c.113_130del
Substitution Exon 1 Basic (exons 1-3) - p.0? Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.3G>A 1 NP_056375.2:p.0? - Mutation in start codon of gene OPA1 - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+?/? OPA1_00328 c.3G>T Substitution Exon 1 Basic (exons 1-3) - p.0? Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.3G>T 1 NP_056375.2:p.0? - Mutation in start codon of gene OPA1 - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
?/? OPA1_00333 c.32+87del Deletion Intron 1 Non-specific domain - p.? Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.32+87del 1 p.? - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00236 c.112C>T Substitution Exon 2 Basic (exons 1-3) - p.(Arg38*) Nakamura et al. (2006) SEQ DNA Blood - NM_015560.1:c.112C>T 2 NP_056375.1:p.(Arg38*) - eOPA1 identifier (obsolete):OA_00245; Nucleotide change: C to T at 112 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Japan Nakamura et al. (2006), France:Angers OPA1 mutation segregates with phenotype; Phenotype inheritance: familial 1
+/+? OPA1_00082 c.113_130del Deletion Exon 2 Basic (exons 1-3) - p.(Arg38_Ser43del) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.113_130del 2 NP_056375.1:p.(Arg38_Ser43del) - eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Denmark Thiselton et al. (2002), France:Angers - 1
+/+? OPA1_00166 c.154C>T Substitution Exon 2 Basic (exons 1-3) - p.(Arg52*) Ban et al. (2007) SEQ DNA Blood - NM_015560.1:c.154C>T 2 NP_056375.1:p.(Arg52*) - eOPA1 identifier (obsolete):OA_00175; Nucleotide change: C to T at 154 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Japan Ban et al. (2007), Japan:Nantan Phenotype inheritance: Familial 1
+/+? OPA1_00158 c.181C>T Substitution Exon 2 Basic (exons 1-3) - p.(Gln61*) Nakamura et al. (2006) SEQ DNA Blood - NM_015560.1:c.181C>T 2 NP_056375.1:p.(Gln61*) - eOPA1 identifier (obsolete):OA_00168; Nucleotide change: C to T at 181 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Japan Nakamura et al. (2006), France:Angers OPA1 mutation segregates with phenotype; Phenotype inheritance: familial 1
+/+? OPA1_00165 c.190del Deletion Exon 2 Basic (exons 1-3) - p.(Ser64Leufs*2) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.190del 2 NP_056375.1:p.(Ser64Leufs*2) - eOPA1 identifier (obsolete):OA_00174; Nucleotide change: Deletion of T at 189 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
+/+? OPA1_00139 c.239A>G Substitution Exon 2 Basic (exons 1-3) - p.(Tyr80Cys) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.239A>G 2 NP_056375.1:p.(Tyr80Cys) - eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers Phenotype inheritance: sporadic 1
-/-? OPA1_00149 c.27-5C>T Substitution Intron 2 Basic (exons 1-3) - p.(=) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.27-5C>T 2 - - eOPA1 identifier (obsolete):OA_00159; Nucleotide change: C to T at 27-5 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers - 1
+/+? OPA1_00167 c.284C>T Substitution Exon 2 Basic (exons 1-3) - p.(Thr95Met) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.284C>T 2 NP_056375.1:p.(Thr95Met) - eOPA1 identifier (obsolete):OA_00176; Nucleotide change: C to T at 284 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
+/+? OPA1_00218 c.305A>G Substitution Exon 2 Basic (exons 1-3) - p.(Tyr102Cys) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.305A>G 2 NP_056375.1:p.(Tyr102Cys) - eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
-/-? OPA1_00041 c.321G>A Substitution Exon 2 Basic (exons 1-3) - p.(=) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.321G>A 2 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers - 1
+/+? OPA1_00253 c.344C>T Substitution Exon 2 Basic (exons 1-3) - p.(Ala115Val) Yu-Wai-Man et al. (Brain, 2010) SEQ DNA Blood - NM_015560.2:c.344C>T 2 NP_056375.2:p.(Ala115Val) - eOPA1 identifier (obsolete):OA_00266; Nucleotide change: C to T at 344 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Italy Yu-Wai-Man et al. (Brain, 2010), France:Angers Other relevant clinical information: Ataxia, neuropathy 1
+?/+? OPA1_00349 c.33-?_448+?del Deletion Exon 2-3 Basic (exons 1-3) - p.? Mavrogiannis LA, Charlton RS (unpublished) MLPA DNA - - NM_015560.2:c.33-?_448+?del 2-3 p.? - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+?/+? OPA1_00273 c.33-?_2983+?dup Duplication Exon 2-29 Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - p.? Mavrogiannis LA, Prescott K, Charlton RS (unpublished) MLPA DNA Blood - NM_015560:c.33-?_2818+?dup 2-27 p.? - eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP - - ADOA - - - - - - - - - - - - - - - - - - - - - - - United Kingdom Mavrogiannis LA, Prescott K, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds OPA1 mutation segregates with phenotype; Phenotype inheritance: familial 1
-?/? OPA1_00318 c.43C>A
    + c.321G>A, c.1342A>C
Substitution Exon 2 Basic (exons 1-3) - p.(Gln15Lys) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.43C>A 2 NP_056375.2:p.(Gln15Lys) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
-?/? OPA1_00321 c.70A>G Substitution Exon 2 Basic (exons 1-3) - p.(Ile24Val) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.70A>G 2 NP_056375.2:p.(Ile24Val) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00082 c.113_130del Deletion Exon 2 Basic (exons 1-3) - p.(Arg38_Ser43del) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.113_130del 2 NP_056375.1:p.(Arg38_Ser43del) - eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - Male ADOA 31-40 years 34 years < 11 years Unknown - OD: Profound visual loss (Log MAR > 0.9), OS: Profound visual loss (Log MAR > 0.9) - OD: Diffuse pallor, OS: Diffuse pallor OD: [0-0.4], OS: [0-0.4] OD: Generalised non specific dyschromatopsia, OS: Generalised non specific dyschromatopsia OD: Type: Humphrey/Octopus automated perimetry, OD: MD: [-4.01 to -12], OD: Result: Centrocecal scotoma, OS: Type: Humphrey/Octopus automated perimetry, OS: MD: [-12.01 to -20], OS: Result: Undefined central defect OD: Mean RNFL: Thinning in 2 or more quadrants, OD: Mean GCL: Not known, OS: Mean RNFL: Thinning in 2 or more quadrants, OS: Mean GCL: Not known, Device: Cirrus D: Stopped driving No - - - - - - - - - France France:Angers - 1
+?/+? OPA1_00082 c.113_130del
    + c.3G>A
Deletion Exon 2 Basic (exons 1-3) - p.(Arg38_Ser43del) - SEQ DNA - - NM_015560.1:c.113_130del 2 NP_056375.1:p.(Arg38_Ser43del) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00356 c.113_130del Deletion Exon 2 Basic (exons 1-3) - p.(Arg38_Ser43del) - SEQ DNA - - NM_015560.1:c.113_130del 2 NP_056375.1:p.(Arg38_Ser43del) - - - Female ADOA > 50 years 73 years < 11 years No - OS: Moderately impaired vision (Log MAR: 0.2-0.1) Unknown - - - - - D: Able to drive, F: Able to eat, cook and buy food without help, SL: No difficulty at all No Normal hearing (loss of 0-20dB) - - No technical assistance - - Muscle biopsy: Not performed MRI: Optic atrophy Tobacco: None - USA, mixed European ancestry, United States:Sacramento OPA1 mutation discover on WES due to complaints of fatigue and tingling 1
+/+? OPA1_00327 c.267G>A Substitution Exon 2 Basic (exons 1-3) - p.(Trp89*) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.267G>A 2 NP_056375.2:p.(Trp89*) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
-?/-? OPA1_00041 c.321G>A
    + c.43C>A, c.1342A>C
Substitution Exon 2 Basic (exons 1-3) - p.(=) - SEQ DNA - - NM_015560.1:c.321G>A 2 p.(=) - eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
-/-? OPA1_00146 c.15+24T>A Substitution Intron 3 Basic (exons 1-3) - p.(=) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.15+24T>A 3 - - eOPA1 identifier (obsolete):OA_00156; Nucleotide change: T to A at 15+24 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers - 1
+/+? OPA1_00168 c.361C>T Substitution Exon 3 Basic (exons 1-3) - p.(Gln121*) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.361C>T 3 NP_056375.1:p.(Gln121*) - eOPA1 identifier (obsolete):OA_00177; Nucleotide change: C to T at 361 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
-/-? OPA1_00042 c.420G>T Substitution Exon 3 Basic (exons 1-3) - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.420G>T 3 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00045; Nucleotide change: G to T at 420 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
+/+? OPA1_00076 c.448+1G>C Substitution Intron 3 Basic (exons 1-3) - p.? Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.448+1G>C 3 - - eOPA1 identifier (obsolete):OA_00084; Nucleotide change: G to C at 448+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Belgium Thiselton et al. (2002), France:Angers - 1
+/+? OPA1_00169 c.448+2T>G Substitution Intron 3 Basic (exons 1-3) - p.? Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.448+2T>G 3 - - eOPA1 identifier (obsolete):OA_00178; Nucleotide change: T to G at 448+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
+?/+? OPA1_00290 c.356_357del Deletion Exon 3 Basic (exons 1-3) - p.(Phe119*) Almind et al. (2012) SEQ DNA Blood - NM_015560.2:c.356_357del 3 NP_056375.2:p.(Phe119*) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Denmark Almind et al. (2012), France:Angers - 1
+/? OPA1_00323 c.357del Deletion Exon 3 Basic (exons 1-3) - p.(Phe119fs) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.357del 3 NP_056375.2:p.(Phe119fs) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
-?/? OPA1_00336 c.381G>A
    + c.799A>T
Substitution Exon 3 Basic (exons 1-3) - p.(=) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.381G>A 3 p.(=) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+?/? OPA1_00279 c.449-?_1035+?dup Duplication Exon 4-10 GTPase (exons 10-17) - p.? Mavrogiannis LA, Robertson L, Charlton RS (unpublished) MLPA DNA Blood - NM_015560.2:c.449-?_870+?dup 4-8 p.? - Large duplication of exons 4-8 (reference: OPA1 transcript variant 1, NM_015560.1) detected by MLPA - - ADOAD - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Robertson L, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
-/-? OPA1_00043 c.473A>G Substitution Exon 4 Non-specific domain - p.(Asn158Ser) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.473A>G 4 NP_056375.1:p.(Asn158Ser) - eOPA1 identifier (obsolete):OA_00046; Nucleotide change: A to G at 473 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
-/-? OPA1_00044 c.478G>C Substitution Exon 4 Non-specific domain - p.(Glu160Gln) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.478G>C 4 NP_056375.1:p.(Glu160Gln) - eOPA1 identifier (obsolete):OA_00047; Nucleotide change: G to C at 478 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
-/-? OPA1_00045 c.500C>T Substitution Exon 4 Non-specific domain - p.(Pro167Leu) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.500C>T 4 NP_056375.1:p.(Pro167Leu) - eOPA1 identifier (obsolete):OA_00048; Nucleotide change: C to G at 500 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Thiselton et al. (2002), France:Angers - 1
-/-? OPA1_00047 c.556+178G>T Substitution Intron 4 Non-specific domain - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.556+178G>T 4 - - eOPA1 identifier (obsolete):OA_00050; Nucleotide change: G to T at 556+178 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Delettre et al. (2001), France:Angers - 1
-/-? OPA1_00046 c.611-19T>C Substitution Intron 4 Non-specific domain - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.557-19T>C 4 - - eOPA1 identifier (obsolete):OA_00049; Nucleotide change: T to C at 557-19 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
-?/-? OPA1_00341 c.534A>G
    + c.1184T>C
Substitution Exon 4 Non-specific domain - p.(=) - SEQ DNA - - NM_015560.2:c.534A>G 4 p.(=) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00283 c.610+360G>A Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, SEQ DNA blood - - - - - - - Male ADOA - - - - - - - - - - - - - - - - - - - - - - - - Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00286 c.610+360G>A Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, RT-PCR, SEQ DNA, RNA - - - - - - - - Male ADOA 11-20 years - - - - - - - - - - - - - - - - - - - - - - - Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00286 c.610+360G>A Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, SEQ DNA - - - - - - - - Female ADOA - - - - - - - - - - - - - - - - - - - - - - - - Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00286 c.610+360G>A Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, SEQ DNA - - - - - - - - Female ADOA - - - - - - - - - - - - - - - - - - - - - - - - Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00282 c.610+364G>A
    + c.1311A>G
Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) PCR, RT-PCR, SEQ DNA Blood, fibroblasts - - - - - - - Male ADOA+ 1-5 years 46 years 41-50 years - Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia - - - - - - - - - - - - LL: wheelchair bound (disease duration > 30 years), UL: difficulty to write (disease duration >30 years) - - - MRI: Cerebellar atrophy - German/Italian Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00285 c.610+364G>A
    + c.1311A>G
Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, SEQ DNA blood, fibroblasts - - - - - - - Male ADOA+ 1-5 years 46 years 41-50 years - Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia - - - - - - - - - - - - LL: wheelchair bound (disease duration > 30 years) - - - MRI: Cerebellar atrophy - German / Italian Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00285 c.610+364G>A
    + c.1311A>G
Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, SEQ DNA blood, fibroblasts - - - - - - - Female ADOA+ 1-5 years 48 years 41-50 years - Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia - - - - - - - - - - - - LL: wheelchair bound (disease duration > 30 years) - - Muscle biopsy: Not performed, Nerve biopsy: Not performed MRI: Cerebellar atrophy - German / Italian Bonifert et al. (2014), Germany:Tübingen - 1
+/+? OPA1_00285 c.610+364G>A Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, RT-PCR, SEQ DNA, RNA - - - - - - - - Male ADOA - 46 years - - - - - - - - - - - - - - - - - - - - - - Bonifert et al. (2014), Germany:Tübingen - 1
-/-? OPA1_00048 c.629C>T Substitution Exon 6 Non-specific domain - p.(Ala210Val) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.575C>T 5 NP_056375.1:p.(Ala192Val) - eOPA1 identifier (obsolete):OA_00051; Nucleotide change: C to T at 575 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers - 1
?/? OPA1_00358 c.678+1G>T Substitution Intron 6 Non-specific domain - p.? Liskova et al. (2016) SEQ DNA - - NM_015560.2:c.624+1G>T 4 p.? - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Liskova et al. (2016), Czech Republic:Prague - 1
+?/? OPA1_00330 c.678+2T>G Substitution Intron 6 Non-specific domain - p.? Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.624+2T>G 5 p.? - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00235 c.740G>A Substitution Exon 7 Non-specific domain - p.(Arg247His) Cornille et al. (2008) SEQ DNA Blood - - 5b - - eOPA1 identifier (obsolete):OA_00244; Nucleotide change: G to A at 740 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation in alternate spliced exon - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Cornille et al. (2008), France:Angers OPA1 mutation don't segregates with phenotype; Phenotype inheritance: familial; Other relevant clinical information: Partial, spontaneous visual recovery 1
-/-? OPA1_00254 c.768C>G Substitution Exon 7 Non-specific domain - p.(Ser256Arg) Yu-Wai-Man et al. (Brain, 2010) SEQ DNA Blood - - 5b - - eOPA1 identifier (obsolete):OA_00267; Nucleotide change: C to G at 768 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - Norway Yu-Wai-Man et al. (Brain, 2010), France:Angers Phenotype inheritance: familial 1
-/-? OPA1_00254 c.768C>G
    + c.1019A>G
Substitution Exon 7 Non-specific domain - p.(Ser256Arg) Yu-Wai-Man et al. (Brain, 2010) SEQ DNA Blood - - 5b - - eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature 2 - ADOA - - - - - - - - - - - - - - - - - - - - - - - Norway Yu-Wai-Man et al. (Brain, 2010), France:Angers Nucleotide change: Compound heterozygous mutation for C to G at 768 and A to G at 1019 (reference: OPA1 transcript variant 1, NM_015560.1); Phenotype inheritance: familial; Other relevant clinical information: Ataxia, myopayhy, neuropathy, spasticity 1
-/-? OPA1_00145 c.6-13T>G Substitution Intron 8 Non-specific domain - p.(=) Han et al. (2006) SEQ DNA Blood - NM_015560.1:c.6-13T>G 6 - - eOPA1 identifier (obsolete):OA_00155; Nucleotide change: T to G at 6-13 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - - Han et al. (2006), France:Angers - 1
+/+? OPA1_00088 c.794C>A Substitution Exon 8 Non-specific domain - p.(Ser265*) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.629C>A 6 NP_056375.1:p.(Ser210*) - eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers - 1
+/+? OPA1_00248 c.796_799del Deletion Exon 8 Non-specific domain - p.(Asp266Lysfs*16) Cohn et al. (2007) SEQ DNA Blood - NM_015560.2:c.631_634del 6 NP_056375.2:p.(Asp211Lysfs*16) - eOPA1 identifier (obsolete):OA_00261; Nucleotide change: Deletion of GACA at 631_634 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Cohn et al. (2007), France:Angers - 1
+/+? OPA1_00026 c.800_801del Deletion Exon 8 Non-specific domain - p.(Lys267Argfs*4) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.635_636del 6 NP_056375.1:p.(Lys212Argfs*4) - eOPA1 identifier (obsolete):OA_00028; Nucleotide change: Deletion of 2 nucleotides at 635_636 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature 2 - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
+/+? OPA1_00026 c.800_801del
    + c.1807G>A
Deletion Exon 8 Non-specific domain - p.(Lys267Argfs*4) Yu-Wai-Man et al. (Brain, 2010) SEQ DNA Blood - NM_015560.2:c.635_636del 6 NP_056375.2:p.(Lys212Argfs*4) - eOPA1 identifier (obsolete):OA_00272; Nucleotide change: Deletion of AA at 635_636 and G to A at 1642 with alleles unknown (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 6 to exon 17 (reference: OPA1 transcript variant 1, NM_015560.1) 2 - ADOA - - - - - - - - - - - - - - - - - - - - - - - Germany Yu-Wai-Man et al. (Brain, 2010), France:Angers Phenotype inheritance: familial; Other relevant clinical information: Deafness 1
+/+? OPA1_00010 c.800_803del Deletion Exon 8 Non-specific domain - p.(Lys267Argfs*15) Baris et al. (2003) SEQ DNA Blood - NM_015560.1:c.635_638del 6 NP_056375.1:p.(Lys212Argfs*15) - eOPA1 identifier (obsolete):OA_00011; Nucleotide change: Deletion of 4 nucleotides at 635_638 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - France Baris et al. (2003), France:Angers - 1
+/+? OPA1_00263 c.804_805del Deletion Exon 8 Non-specific domain - p.(Lys269Asnfs*2) Yu-Wai-Man et al. (Ophthalmology, 2010) SEQ DNA Blood - NM_015560.2:c.639_640del 6 NP_056375.2:p.(Lys214Asnfs*2) - eOPA1 identifier (obsolete):OA_00277; Nucleotide change: Deletion of AG at 638_639 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - England Yu-Wai-Man et al. (Ophthalmology, 2010), France:Angers OPA1 mutation segregates with phenotype; Phenotype inheritance: familial 1
+/+? OPA1_00170 c.830T>C Substitution Exon 8 Non-specific domain - p.(Leu277Pro) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.665T>C 6 NP_056375.1:p.(Leu222Pro) - eOPA1 identifier (obsolete):OA_00179; Nucleotide change: T to C at 665 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
+/+? OPA1_00159 c.893T>A Substitution Exon 8 Non-specific domain - p.(Leu298*) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.728T>A 6 NP_056375.1:p.(Leu243*) - eOPA1 identifier (obsolete):OA_00246; Nucleotide change: T to A at 728 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - France Ferre et al. (2009), France:Angers Other relevant clinical information: Deafness, ataxia, neuropathy 1
+?/? OPA1_00088 c.794C>A Substitution Exon 8 Non-specific domain - p.(Ser265*) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.629C>A 6 NP_056375.1:p.(Ser210*) - eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - Male ADOA 11-20 years 41 years 21-30 years Unknown - OD: Severely impaired vision (Log MAR: 0.9-0.3), OS: Severely impaired vision (Log MAR: 0.9-0.3) Worsening OD: Diffuse pallor, OS: Diffuse pallor - OD: Generalised non specific dyschromatopsia, OS: Generalised non specific dyschromatopsia OD: Type: Humphrey/Octopus automated perimetry, OD: MD: [-4.01 to -12], OD: Result: Undefined central defect, OS: Type: Humphrey/Octopus automated perimetry, OS: MD: [-4.01 to -12], OS: Result: Undefined central defect OD: Mean RNFL: Thinning in 2 or more quadrants, OD: Mean GCL: Not known, OS: Mean RNFL: Thinning in 2 or more quadrants, OS: Mean GCL: Not known, Device: Heidelberg - - - - - No technical assistance - - - MRI: Optic atrophy Tobacco: None, Alcohol: Occasionally Portugal France:Angers - 1
+/+? OPA1_00337 c.799A>T
    + c.381G>A
Substitution Exon 8 Non-specific domain - p.(Lys267*) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.634A>T 6 NP_056375.2:p.(Lys212*) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00320 c.814C>T Substitution Exon 8 Non-specific domain - p.(Gln272*) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.649C>T 6 NP_056375.2:p.(Gln217*) - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
+/+? OPA1_00269 c.844-?_1149+?dup Duplication Exon 9-11 GTPase (exons 10-17) - p.? Fuhrmann et al. (2009) SEQ DNA Blood - NM_015560.2:c.679-?_984+?dup 7-9 - - eOPA1 identifier (obsolete):OA_00283; Nucleotide change: Duplication of exons 7-9 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 7 to exon 9 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Fuhrmann et al. (2009), France:Angers Phenotype inheritance: familial 1
+/+? OPA1_00121 c.868C>T Substitution Exon 9 Non-specific domain - p.(Arg290*) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.703C>T 7 NP_056375.1:p.(Arg235*) - eOPA1 identifier (obsolete):OA_00130; Nucleotide change: C to T at 703 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Finland Puomila et al. (2005), France:Angers OPA1 mutation segregates with phenotype; Phenotype inheritance: familial 1
+/+? OPA1_00122 c.889G>T Substitution Exon 9 Non-specific domain - p.(Glu297*) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.724G>T 7 NP_056375.1:p.(Glu242*) - eOPA1 identifier (obsolete):OA_00131; Nucleotide change: G to T at 724 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Finland Puomila et al. (2005), France:Angers OPA1 mutation segregates with phenotype; Phenotype inheritance: familial 1
+/+? OPA1_00075 c.898A>T Substitution Exon 9 Non-specific domain - p.(Lys300*) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.733A>T 7 NP_056375.1:p.(Lys245*) - eOPA1 identifier (obsolete):OA_00082; Nucleotide change: A to T at 733 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - United Kingdom Thiselton et al. (2002), France:Angers - 1
+/+? OPA1_00173 c.949-1G>A Substitution Intron 9 Non-specific domain - p.? Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.784-1G>A 7 - - eOPA1 identifier (obsolete):OA_00182; Nucleotide change: G to A at 784-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
-/-? OPA1_00049 c.956+49_957-51del Deletion Intron 9 Non-specific domain - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.791+49_792-51del 7 - - eOPA1 identifier (obsolete):OA_00053; Nucleotide change: Intronic (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Thiselton et al. (2002), France:Angers - 1
?/? OPA1_00307 c.852T>A Substitution Exon 9 - - p.(Tyr284*) Galvez-Ruiz et al. (2013) SEQ DNA Blood - NM_015560.2:c.687T>A 7 NP_056375.2:p.(Tyr229*) - - - Male ADOA Asymptomatic 12 years - No - OD: Moderately impaired vision (Log MAR: 0.2-0.1), OS: Moderately impaired vision (Log MAR: 0.2-0.1) Unknown OD: Temporal pallor, OS: Temporal pallor - - OD: Type: Goldmann visual field, OD: Result: Normal, OS: Type: Goldman visual field, OS: Result: Normal - - - - - - - - - - MRI: Normal Tobacco: None, Alcohol: None Saudi Arabia Galvez-Ruiz et al. (2013), France:Angers - 1
+/? OPA1_00359 c.943C>T Substitution Exon 9 Non-specific domain - p.(Leu315Phe) Liskova et al. (2016) SEQ DNA - - NM_015560.2:c.778C>T 7 NP_056375.2:p.(Leu260Phe) - - - - - - - - - - - - - - - - - - - - - - - - - - - - Czech Liskova et al. (2016), Czech Republic:Prague - 1
?/? OPA1_00325 c.949-3C>A Substitution Intron 9 Non-specific domain - p.? Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.784-3C>A 7 p.? - - - - ADOAD - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
?/? OPA1_00308 c.949-2A>T Substitution Intron 9 - - p.? Galvez-Ruiz et al. (2013) SEQ DNA Blood - NM_015560.2:c.784-2A>T 7 NP_056375.2:p.? - - - Male ADOA 1-5 years 13 years < 11 years No - OD: Severely impaired vision (Log MAR: 0.9-0.3), OS: Severely impaired vision (Log MAR: 0.9-0.3) Unknown OD: Temporal pallor, OS: Temporal pallor - - OD: Type: Goldmann visual field, OD: Result: Centrocecal scotoma, OS: Type: Goldman visual field, OS: Result: Centrocecal scotoma, OS: Result: Paracentral scotoma - - - - - - - - - - MRI: Normal - Saudi Arabia Galvez-Ruiz et al. (2013), France:Angers - 1
+/+? OPA1_00255 c.1019A>G
    + c.768C>G
Substitution Exon 10 GTPase (exons 10-17) - p.(Gln340Arg) Yu-Wai-Man et al. (Brain, 2010) SEQ DNA Blood - - 8 - - eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Norway Yu-Wai-Man et al. (Brain, 2010), France:Angers Nucleotide change: Compound heterozygous mutation for C to G at 768 and A to G at 1019 (reference: OPA1 transcript variant 1, NM_015560.1); Phenotype inheritance: familial; Other relevant clinical information: Ataxia, myopayhy, neuropathy, spasticity 1
+/+? OPA1_00091 c.1033C>T
    + c.973G>A
Substitution Exon 10 GTPase (exons 10-17) - p.(Arg345Trp) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.868C>T 8 NP_056375.1:p.(Arg290Trp) - eOPA1 identifier (obsolete):OA_00100; Nucleotide change: C to T at 868 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers The two heterozygous missense mutations c.808G>A and c.868C>T (reference: OPA1 transcript variant 1, NM_015560.1) were identified in the same patient (semi-dominant inheritance). Clinical examination showed that this patient is the most severely affected family member. 1
+/+? OPA1_00020 c.1034G>A Substitution Exon 10 GTPase (exons 10-17) - p.(Arg345Gln) Alexander et al. (2000) SEQ DNA Blood - NM_015560.1:c.869G>A 8 NP_056375.1:p.(Arg290Gln) - eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - Cuba Alexander et al. (2000), France:Angers OPA1 mutation don't segregates with phenotype 1
+/+? OPA1_00092 c.1034G>T Substitution Exon 10 GTPase (exons 10-17) - p.(Arg345Leu) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.869G>T 8 NP_056375.1:p.(Arg290Leu) - eOPA1 identifier (obsolete):OA_00101; Nucleotide change: G to T at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers - 1
+/+? OPA1_00237 c.1035+1G>T Substitution Intron 10 GTPase (exons 10-17) - p.? Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.870+1G>T 8 - - eOPA1 identifier (obsolete):OA_00247; Nucleotide change: G to A at 870+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
+?/? OPA1_00278 c.1035+2T>A Substitution Intron 10 Non-specific domain - p.? Mavrogiannis LA, Clayton-Smith J, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.870+2T>A 8 p.? - - - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Mavrogiannis LA, Clayton-Smith J, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds - 1
-/-? OPA1_00050 c.1035+32T>C Substitution Intron 10 GTPase (exons 10-17) - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.870+32T>C 8 - - eOPA1 identifier (obsolete):OA_00055; Nucleotide change: T to C at 870+32 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
-/-? OPA1_00131 c.1035+4C>A Substitution Intron 10 GTPase (exons 10-17) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.870+4C>A 8 - - eOPA1 identifier (obsolete):OA_00141; Nucleotide change: C to A at 870 (reference: OPA1 transcript variant 1, NM_015560.1) - - - - - - - - - - - - - - - - - - - - - - - - - - Finland Puomila et al. (2005), France:Angers - 1
+/+? OPA1_00028 c.1035+5G>A Substitution Intron 10 GTPase (exons 10-17) - p.(Lys317_Arg345del) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.870+5G>A 8 - - eOPA1 identifier (obsolete):OA_00030; Nucleotide change: G to A at 870+5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: In-frame skipping of exon 8, loss of 29 aa (reference: OPA1 isoform 1, NP_056375.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
+/+? OPA1_00239 c.1036-1G>A Substitution Intron 10 GTPase (exons 10-17) - p.? Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.871-1G>A 8 - - eOPA1 identifier (obsolete):OA_00249; Nucleotide change: G to A at 871-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Ferre et al. (2009), France:Angers - 1
-/-? OPA1_00051 c.1036-26A>G Substitution Intron 10 GTPase (exons 10-17) - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.871-26A>G 8 - - eOPA1 identifier (obsolete):OA_00056; Nucleotide change: A to G at 871-26 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
+/+? OPA1_00027 c.959_962del Deletion Exon 10 GTPase (exons 10-17) - p.(Ile320Thrfs*42) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.794_797del 8 NP_056375.1:p.(Ile265Thrfs*42) - eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Toomes et al. (2001), France:Angers - 1
+/+? OPA1_00277 c.968A>G Substitution Exon 10 GTPase (exons 10-17) - p.(Tyr323Cys) Pickart A, Bick D (unpublished) SEQ DNA Blood - NM_015560.2:c.803A>G 8 NP_056375.2:p.(Tyr268Cys) - eOPA1 identifier (obsolete):OA_00291; Nucleotide change: A to G at 803 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation de novo in proband, no family history of optic atrophy outside of proband - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pickart A, Bick D (unpublished), United States:Milwaukee - 1
+/+? OPA1_00089 c.973G>A
    + c.1033C>T
Substitution Exon 10 GTPase (exons 10-17) - p.(Glu325Lys) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.808G>A 8 NP_056375.1:p.(Glu270Lys) - eOPA1 identifier (obsolete):OA_00098; Nucleotide change: G to A at 808 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers The two heterozygous missense mutations c.808G>A and c.868C>T (reference: OPA1 transcript variant 1, NM_015560.1) were identified in the same patient (semi-dominant inheritance). Clinical examination showed that this patient is the most severely affected family member. 1
+/+? OPA1_00003 c.980T>C Substitution Exon 10 GTPase (exons 10-17) - p.(Leu327Pro) Baris et al. (2003) SEQ DNA Blood - NM_015560.1:c.815T>C 8 NP_056375.1:p.(Leu272Pro) - eOPA1 identifier (obsolete):OA_00003; Nucleotide change: T to C at 815 (reference: OPA1 transcript variant 1, NM_015560.1) - - ADOA - - - - - - - - - - - - - - - - - - - - - - - France Baris et al. (2003), France:Angers - 1
+/+? OPA1_00090 c.983A>C Substitution Exon 10 GTPase (exons 10-17) - p.(Asp328Ala) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.818A>C 8 NP_056375.1:p.(Asp273Ala) - eOPA1 identifier (obsolete):OA_00099; Nucleotide change: A to C at 818 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - ADOA - - - - - - - - - - - - - - - - - - - - - - - - Pesch et al. (2001), France:Angers - 1
+/? OPA1_00361 c.949-2A>G Substitution Intron 10 GTPase (exons 10-17) - p.? Liskova et al. (2016) SEQ DNA - - NM_015560.2:c.784-2A>G 8 p.? - - - - - - - - - - - - - - - - - - - - - - - - - - - - British Liskova et al. (2016), Czech Republic:Prague - 1
+/? OPA1_00360 c.949-1G>C Substitution Intron 10 GTPase (exons 10-17) - p.? Liskova et al. (2016) SEQ DNA - - NM_015560.2:c.784-1G>C 8 p.? - - - - - - - - - - - - - - - - - - - - - - - - - - - - British Liskova et al. (2016), Czech Republic:Prague - 1
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Variants are described according to OPA1 transcript variant 8 (exons 4, 5/4b and 7/5b; RefSeq: NM_130837.2). In addition, in specific columns "/variant 1" and "/isoform 1", some mutations are described according to variant 1 (exon 4, not 5/4b and 7/5b; RefSeq: NM_015560.2) for historical reasons.

Legend: [ OPA1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. OPA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. DNA change (cDNA): Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Location: Variant location at DNA level. Exon: Exon numbering. Affected domain: Affected domain of the protein. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein. Tissue: Tissue type the variant was detected in. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. DNA change/variant 1: Variation at DNA level described according to OPA1 transcript variant 1 (exon 4, not 5/4b and 7/5b; RefSeq: NM_015560.2; previous naming convention). Exon/variant 1: Exon numbering described according to OPA1 transcript variant 1 (exon 4/not 4b and 5b; RefSeq: NM_015560.2; previous numbering convention). Protein/isoform 1: Variation at protein level described according to OPA1 isoform 1 (exon 4, not 5/4b and 7/5b; RefSeq: NP_056375.2); previous naming convention). DNA published: What the variant was reported as. Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic. Gender: Patient gender Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Age of onset: Age of the patient when the first symptoms occurred. Age at last examination: Age of the patient at the last examination. Duration of disease: Duration of the disease between first symptoms and the age of the last clinical examination. Affected relatives: Affected relatives genetically confirmed. Additional features: Additional features to the classical description of the disease. Visual acuity: Best corrected visual acuity. Evolution of vision loss: Evolution of vision loss since diagnosis (2 or more decimal lines). Optic disc: Optic disc appearance. Cupping: Cup to disc ratio on fundoscopy. Color vision: Clinical evaluation of color vision. Visual field: Type, value of MD and results of visual field. OCT: Mean retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness by OCT. Visual handicap: Eventual handicap of the patient, at the last clinical examination, ONLY due to visual loss. D: driving; F: feeding; SL: social life; W: working. Hearing loss: Presence of hearing loss due to a genetic cause, i.e. excluding other possible causes (infection, medication, trauma...), and age of onset. Pure tone audiometry: Pure tone audiometry Auditory brainstem responses: Auditory brainstem responses Otoacoustic emission: Otoacoustic emission Functional disability: Functional disability. LL: lower limbs, UL: upper limbs. Clinical score: Clinical score. Electroneuromyography: Indicate the type of neuropathy, and the values of the electrophysiological parameters (MNCV: Motor Nerve Conduction Velocity in m/s; CMAP: Compound Muscle Action Potential in mV; SNAP: Sensory Nerve Action Potential in µV). Histology: Histological findings. Brain imaging: Brain imaging. MRI: magnetic resonance imaging; MR-spectroscopy: magnetic resonance spectroscopy. Habits: Habits of the patient. Geographic origin: Geographic origin of patient Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported