Please note that the eOPA1 website (lbbma.univ-angers.fr/eOPA1) has now moved to the MITOchondrial DYNamics variation portal (mitodyn.org). More details on http://mitolab.eu/eopa1-moved-to-mitodyn/
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) -
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 -
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 -
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 -
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) -
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) -
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) -
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 -
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) -
OPA1_00082 c.113_130del
  (Reported 2 times)
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 -
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) -
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) -
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) -
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) -
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) -
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) -
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) -
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 -
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) SEQ DNA Blood - - 2-27 - - 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 -
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) -
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) -
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) -
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 -
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 -
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 -
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*) - - -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
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 -
OPA1_00254 c.768C>G
  (Reported 2 times)
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) -
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) -
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 -
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 -
OPA1_00026 c.800_801del
  (Reported 2 times)
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
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) -
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 -
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) -
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) -
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 -
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) -
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) -
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 -
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 -
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 -
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*) - - -
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.? - - -
OPA1_00255 c.1019A>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 -
OPA1_00091 c.1033C>T 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 -
OPA1_00020 c.1034G>A
  (Reported 2 times)
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 -
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 -
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 -
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.? - - -
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 -
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) -
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) -
OPA1_00239 c.1036-1G>A
  (Reported 2 times)
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 -
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 -
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 -
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 -
OPA1_00272 c.971C>T Substitution Exon 10 GTPase (exons 10-17) - p.(Ser324Phe) Mavrogiannis LA, Bitner-Glindzicz M, Charlton RS (unpublished) SEQ DNA Blood - NM_015560.2:c.806C>T 8 NP_056375.2:p.(Ser269Phe) - eOPA1 identifier (obsolete):OA_00286; Nucleotide change: C to T at 806 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Apparently de novo chang -
OPA1_00089 c.973G>A 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 -
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) -
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 -
OPA1_00271 c.1036-?_1149+?del Deletion Exon 11 GTPase (exons 10-17) - p.? Fuhrmann et al. (2009) SEQ DNA Blood - NM_015560.2:c.871-?_984+?del 9 - - eOPA1 identifier (obsolete):OA_00285; Nucleotide change: Deletion of exon 9 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00261 c.1041_1043del Deletion Exon 11 GTPase (exons 10-17) - p.(Val349del) Yu-Wai-Man et al. (Ophthalmology, 2010) SEQ DNA Blood - NM_015560.2:c.876_878del 9 NP_056375.2:p.(Val294del) - eOPA1 identifier (obsolete):OA_00275; Nucleotide change: Deletion of TGT at 876_878 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00219 c.1043_1048del Deletion Exon 11 GTPase (exons 10-17) - p.(Val348_Val349del) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.878_883del 9 NP_056375.1:p.(Val293_Val294del) - eOPA1 identifier (obsolete):OA_00228; Nucleotide change: Deletion of GTGGTT nucleotides at 877_882 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00264 c.1054C>T Substitution Exon 11 GTPase (exons 10-17) - p.(Gln352*) Yu-Wai-Man et al. (Ophthalmology, 2010) SEQ DNA Blood - NM_015560.2:c.889C>T 9 NP_056375.2:p.(Gln297*) - eOPA1 identifier (obsolete):OA_00278; Nucleotide change: C to T at 889 (nonsense mutation) (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00018 c.1064G>A Substitution Exon 11 GTPase (exons 10-17) - p.(Gly355Glu) Delettre et al. (2000) SEQ DNA Blood - NM_015560.1:c.899G>A 9 NP_056375.1:p.(Gly300Glu) - eOPA1 identifier (obsolete):OA_00019; Nucleotide change: G to A at 899 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00171 c.1094A>G Substitution Exon 11 GTPase (exons 10-17) - p.(Gln365Arg) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.929A>G 9 NP_056375.1:p.(Gln310Arg) - eOPA1 identifier (obsolete):OA_00180; Nucleotide change: A to G at 929 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00093 c.1097del Deletion Exon 11 GTPase (exons 10-17) - p.(Ala366Valfs*11) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.932del 9 NP_056375.1:p.(Ala311Valfs*11) - eOPA1 identifier (obsolete):OA_00102; Nucleotide change: Deletion of C at 932 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00164 c.1099C>T
  (Reported 2 times)
Substitution Exon 11 GTPase (exons 10-17) - p.(Arg367*) Cardaioli et al. (2006) SEQ DNA Blood - NM_015560.1:c.934C>T 9 NP_056375.1:p.(Arg312*) - eOPA1 identifier (obsolete):OA_00173; Nucleotide change: C to T at 934 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00249 c.1102_1103delinsGA Insertion/Deletion Exon 11 GTPase (exons 10-17) - p.(Ile368Glu) Cohn et al. (2007) SEQ DNA Blood - NM_015560.2:c.937_938delinsGA 9 NP_056375.2:p.(Ile313Glu) - eOPA1 identifier (obsolete):OA_00262; Nucleotide change: Deletion of AT at 937_938 and insertion of GA (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00163 c.1111A>T Substitution Exon 11 GTPase (exons 10-17) - p.(Arg371*) Nakamura et al. (2006) SEQ DNA Blood - NM_015560.1:c.946A>T 9 NP_056375.1:p.(Arg316*) - eOPA1 identifier (obsolete):OA_00172; Nucleotide change: A to T at 946 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00126 c.1135_1143del Deletion Exon 11 GTPase (exons 10-17) - p.(Arg379_Pro381del) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.970_978del 9 NP_056375.1:p.(Arg324_Pro326del) - eOPA1 identifier (obsolete):OA_00135; Nucleotide change: Deletion of CGTTCTCCA at 970 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00006 c.1148A>G Substitution Exon 11 GTPase (exons 10-17) - p.(Val346_Phe383del) Baris et al. (2003) SEQ DNA Blood - NM_015560.1:c.983A>G 9 - - eOPA1 identifier (obsolete):OA_00007; Nucleotide change: A to G at 983 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: In-frameskipping of exon 9, loss of 38 aa (reference: OPA1 isoform 1, NP_056375.1) -
OPA1_00238 c.1148_1149+3del Deletion Exon 11 GTPase (exons 10-17) - p.Lys383Serfs*4 Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.983_984+3del 9 NP_056375.1:p.Lys328Serfs*4 - eOPA1 identifier (obsolete):OA_00248; Nucleotide change: Deletion of AGGTA at 983_984+3 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 9 to intron 9 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00078 c.1149+1_1150-5del Deletion Intron 11 GTPase (exons 10-17) - p.? Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.984+1_985-5del 9 - - eOPA1 identifier (obsolete):OA_00087; Nucleotide change: Deletion of intron 9 at 984+1_985-5 (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 -
OPA1_00077 c.1149+3A>T Substitution Intron 11 GTPase (exons 10-17) - p.? Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.984+3A>T 9 - - eOPA1 identifier (obsolete):OA_00086; Nucleotide change: A to T at 984+3 (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 -
OPA1_00007 c.1149G>A Substitution Exon 11 GTPase (exons 10-17) - p.(Val346_Phe403del) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.984G>A 9 - - eOPA1 identifier (obsolete):OA_00008; Nucleotide change: G to A at 984 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: In-frameskipping of exon 9, loss of 38 aa (reference: OPA1 isoform 1, NP_056375.1) -
OPA1_00019 c.1150-1G>A
  (Reported 2 times)
Substitution Intron 11 GTPase (exons 10-17) - p.? Delettre et al. (2000) SEQ DNA Blood - NM_015560.1:c.985-1G>A 9 - - eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (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 -
OPA1_00306 c.1057A>G Substitution Exon 11 GTPase (exons 10-17) - p.(Ser353Gly) - SEQ DNA Blood - NM_015560.2:c.892A>G 9 NM_015560.2:p.(Ser298Gly) - - -
OPA1_00310 c.1149+1G>A Substitution Intron 11 GTPase (exons 10-17) r.1036_ 1149del p.? - SEQ DNA Blood - NM_015560.2:c.984+1G>A 9 NP_056375.2:p.? - - -
OPA1_00291 c.1149+1G>T Substitution Intron 11 GTPase (exons 10-17) - p.? Almind et al. (2012) SEQ DNA Blood - NM_015560.2:c.984+1G>T 9 p.? - - -
OPA1_00288 c.1150-2A>G Substitution Intron 11 GTPase (exons 10-17) - p.? Ranieri et al. (2012) SEQ DNA Blood - NM_015560.2:c.985-2A>G 9 p.? - - -
OPA1_00021 c.1183del Deletion Exon 12 GTPase (exons 10-17) - p.(Leu395Tyrfs*20) Alexander et al. (2000) SEQ DNA Blood - NM_015560.1:c.1018del 10 NP_056375.1:p.(Leu340Tyrfs*20) - eOPA1 identifier (obsolete):OA_00022; Nucleotide change: Deletion of G at 1016 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00113 c.1204G>T Substitution Exon 12 GTPase (exons 10-17) - p.(Glu402*) Yamada et al. (2003) SEQ DNA Blood - NM_015560.1:c.1039G>T 10 NP_056375.1:p.(Glu347*) - eOPA1 identifier (obsolete):OA_00123; Nucleotide change: G to T at 1039 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00052 c.1230+18A>G Substitution Intron 12 GTPase (exons 10-17) - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.1065+18A>G 10 - - eOPA1 identifier (obsolete):OA_00058; Nucleotide change: A to G at 1065+18 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00124 c.1230+2T>C Substitution Intron 12 GTPase (exons 10-17) - p.(Leu411_Glu435del) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.1065+2T>C 10 - - eOPA1 identifier (obsolete):OA_00133; Nucleotide change: T to C at 1065+2 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation as been reported previously in a Korean DOA family (Seong et al., Am J Hum Genet 73:568, 2003);Consequence: Delete exon 11 (splicing defect, reference: OPA1 isoform 1, NP_056375.1) -
OPA1_00241 c.1230+2T>G Substitution Intron 12 GTPase (exons 10-17) - p.? Kim et al. (2005) SEQ DNA Blood - NM_015560.1:c.1065+2T>G 10 - - eOPA1 identifier (obsolete):OA_00251; Nucleotide change: T to G at 1065+2 (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 -
OPA1_00094 c.1230+3A>C Substitution Intron 12 GTPase (exons 10-17) - p.? Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.1065+3A>C 10 - - eOPA1 identifier (obsolete):OA_00104; Nucleotide change: A to C at 1065+3 (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 -
OPA1_00220 c.1234G>A Substitution Exon 13 GTPase (exons 10-17) - p.(Ala412Thr) Ferre et al. (2009) SEQ DNA Blood - NM_015560.1:c.1069G>A 11 NP_056375.1:p.(Ala357Thr) - eOPA1 identifier (obsolete):OA_00229; Nucleotide change: G to A at 1069 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00256 c.1236A>G Substitution Exon 13 GTPase (exons 10-17) - p.(Thr436_Asn459del) Yu-Wai-Man et al. (Brain, 2010) SEQ DNA Blood - NM_015560.2:c.1071A>G 11 NP_056375.2:p.Thr381_Asn404del - eOPA1 identifier (obsolete):OA_00269; Nucleotide change: A to G at 1071 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: In-frame skipping of exon 12 (reference: OPA1 isoform 1, NP_056375.1) -
OPA1_00095 c.1237_1258del Deletion Exon 13 GTPase (exons 10-17) - p.(Ala413Phefs*3) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.1072_1093del 11 NP_056375.1:p.(Ala358Phefs*3) - eOPA1 identifier (obsolete):OA_00105; Nucleotide change: Deletion of 22 nucleotides at 1072_1093 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00053 c.1261C>A Substitution Exon 13 GTPase (exons 10-17) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.1096C>A 11 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00059; Nucleotide change: C to A at 1096 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00001 c.1261C>T Substitution Exon 13 GTPase (exons 10-17) - p.(Arg421*) Alexander et al. (2000) SEQ DNA Blood - NM_015560.1:c.1096C>T 11 NP_056375.1:p.(Arg366*) - eOPA1 identifier (obsolete):OA_00001; Nucleotide change: C to T at 1096 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
1 - 100
[<-] 1 2 3 4 [->]


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.
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_015560.1; previous naming convention). Exon/variant 1: Exon numbering described according to OPA1 transcript variant 1 (exon 4/not 4b and 5b; RefSeq: NM_015560.1; 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_056375.1); previous naming convention). DNA published: What the variant was reported as. Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic.