Please note that the OPA1 database opa1.mitodyn.org has migrated to the LOVD v3.0 platform and moved to the central LOVD servers databases.lovd.nl/shared/genes/OPA1.
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LOVD - Variant listings for OPA1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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56 entries
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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_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_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_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_00041 c.321G>A
  (Reported 2 times)
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_00318 c.43C>A Substitution Exon 2 Basic (exons 1-3) - p.(Gln15Lys) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.43C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) - - -
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G Substitution Exon 2 Basic (exons 1-3) - p.(Ile24Val) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.70A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) - - -
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_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_00336 c.381G>A Substitution Exon 3 Basic (exons 1-3) - p.(=) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.381G>A 3 p.(=) - - -
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_00341 c.534A>G Substitution Exon 4 Non-specific domain - p.(=) - SEQ DNA - - NM_015560.2:c.534A>G 4 p.(=) - - -
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_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_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_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_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_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_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_00329 c.1302T>G Substitution Exon 13 GTPase (exons 10-17) - p.(=) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.1137T>G 11 p.(=) - - -
OPA1_00174 c.1311A>G
  (Reported 3 times)
Substitution Exon 14 GTPase (exons 10-17) - p.(Ile437Met) Ferre et al. (2009) SEQ DNA Blood - NM_015560.2:c.1146A>G 12 NP_056375.2:p.(Ile382Met) - eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00319 c.1342A>C Substitution Exon 14 GTPase (exons 10-17) - p.(=) - SEQ DNA - - NM_015560.2:c.1177A>C 12 p.(=) - - -
OPA1_00054 c.1477+32A>G Substitution Intron 15 GTPase (exons 10-17) - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.1312+32A>G 13 - - eOPA1 identifier (obsolete):OA_00060; Nucleotide change: A to G at 1312+32 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00055 c.1608+23G>A Substitution Intron 16 GTPase (exons 10-17) - p.(=) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.1443+23G>A 14 - - eOPA1 identifier (obsolete):OA_00061; Nucleotide change: G to A at 1443+23 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00133 c.1609-179G>A Substitution Intron 16 GTPase (exons 10-17) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.1444-179G>A 14 - - eOPA1 identifier (obsolete):OA_00142; Nucleotide change: G to A at 1444-179 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00056 c.1609-75T>C Substitution Intron 16 GTPase (exons 10-17) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.1444-75T>C 14 - - eOPA1 identifier (obsolete):OA_00062; Nucleotide change: T to C at 1444-75 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00347 c.1682-16del Deletion Intron 17 Non-specific domain - p.(=) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.1517-16del 15 p.(=) - - -
OPA1_00057 c.1755-35A>T Substitution Intron 18 Dynamin Central (exons 18-26) - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.1590-35A>T 16 - - eOPA1 identifier (obsolete):OA_00063; Nucleotide change: A to T at 1590-35 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00114 c.1773A>C Substitution Exon 19 Dynamin Central (exons 18-26) - p.(=) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.1608A>C 17 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00124; Nucleotide change: A to C at 1608 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00058 c.1813G>A Substitution Exon 19 Dynamin Central (exons 18-26) - p.(Asp605Asn) Pesch et al. (2001) SEQ DNA Blood - NM_015560.1:c.1648G>A 17 NP_056375.1:p.(Asp550Asn) - eOPA1 identifier (obsolete):OA_00064; Nucleotide change: G to A at 1648 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00060 c.1935+16T>G Substitution Intron 20 Dynamin Central (exons 18-26) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.1770+16T>G 18 - - eOPA1 identifier (obsolete):OA_00066; Nucleotide change: T to G at 1770+16 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00059 c.1935+3A>G Substitution Intron 20 Dynamin Central (exons 18-26) - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.1770+3A>G 18 - - eOPA1 identifier (obsolete):OA_00065; Nucleotide change: A to G at 1770+3 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00061 c.1935+51T>G Substitution Intron 20 Dynamin Central (exons 18-26) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.1770+51T>G 18 - - eOPA1 identifier (obsolete):OA_00067; Nucleotide change: T to G at 1770+51 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00134 c.1935+55T>C Substitution Intron 20 Dynamin Central (exons 18-26) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.1770+55T>C 18 - - eOPA1 identifier (obsolete):OA_00143; Nucleotide change: T to C at 1770+55 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00062 c.2274C>T Substitution Exon 23 Dynamin Central (exons 18-26) - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.2109C>T 21 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00068; Nucleotide change: C to T at 2109 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00063 c.2331+115G>T Substitution Intron 23 Dynamin Central (exons 18-26) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.2166+115G>T 21 - - eOPA1 identifier (obsolete):OA_00069; Nucleotide change: G to T at 2166+115 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00135 c.2332-49A>G Substitution Intron 23 Dynamin Central (exons 18-26) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.2167-49A>G 21 - - eOPA1 identifier (obsolete):OA_00144; Nucleotide change: A to G at 2167-49 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00064 c.2332-83T>G Substitution Intron 23 Dynamin Central (exons 18-26) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.2167-83T>G 21 - - eOPA1 identifier (obsolete):OA_00070; Nucleotide change: T to G at 2167-83 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00065 c.2520+16T>A Substitution Intron 25 Dynamin Central (exons 18-26) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.2355+16T>A 23 - - eOPA1 identifier (obsolete):OA_00071; Nucleotide change: T to A at 2355+16 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00136 c.2521-154del Deletion Intron 25 Dynamin Central (exons 18-26) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.2356-154del 23 - - eOPA1 identifier (obsolete):OA_00145; Nucleotide change: Deletion of t at 2356-154 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00066 c.2521-158del Deletion Intron 25 Dynamin Central (exons 18-26) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.2356-158del 23 - - eOPA1 identifier (obsolete):OA_00072; Nucleotide change: Deletion of G at 2356-158 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00137 c.2521-95dup Duplication Intron 25 Dynamin Central (exons 18-26) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.2356-95dup 23 - - eOPA1 identifier (obsolete):OA_00146; Nucleotide change: Insertion of t at 2356-95 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00068 c.2779-112A>G Substitution Intron 27 Non-specific domain - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.2614-112A>G 25 - - eOPA1 identifier (obsolete):OA_00074; Nucleotide change: A to G at 2613-112 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00067 c.2779-142T>C Substitution Intron 27 Non-specific domain - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.2614-142T>C 25 - - eOPA1 identifier (obsolete):OA_00073; Nucleotide change: T to C at 2613-142 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00069 c.2872+25T>A Substitution Intron 28 Non-specific domain - p.(=) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.2707+25T>A 26 - - eOPA1 identifier (obsolete):OA_00075; Nucleotide change: T to A at 2707+25 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00070 c.2880A>G Substitution Exon 29 Putative GED (exons 29-30) - p.(=) Delettre et al. (2001) SEQ DNA Blood - NM_015560.1:c.2715A>G 27 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00076; Nucleotide change: A to G at 2715 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00072 c.2885A>G Substitution Exon 29 Putative GED (exons 29-30) - p.(Glu962Gly) Toomes et al. (2001) SEQ DNA Blood - NM_015560.1:c.2720A>G 27 NP_056375.1:p.(Glu907Gly) - eOPA1 identifier (obsolete):OA_00079; Nucleotide change: A to G at 2720 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00132 c.2973G>A Substitution Exon 29 Putative GED (exons 29-30) - p.(=) Puomila et al. (2005) SEQ DNA Blood - NM_015560.1:c.2808G>A 27 NP_056375.1:p.(=) - eOPA1 identifier (obsolete):OA_00140; Nucleotide change: G to A at 2808 (reference: OPA1 transcript variant 1, NM_015560.1) -
OPA1_00115 c.2983+108G>A Substitution Intron 29 Putative GED (exons 29-30) - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.2818+108G>A 27 - - eOPA1 identifier (obsolete):OA_00125; Nucleotide change: G to A at 2818+108 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
OPA1_00071 c.2983+23T>C Substitution Intron 29 Putative GED (exons 29-30) - p.(=) Thiselton et al. (2002) SEQ DNA Blood - NM_015560.1:c.2818+23T>C 27 - - eOPA1 identifier (obsolete):OA_00077; Nucleotide change: T to C at 2818+23 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -
1 - 56

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_015560.2; 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.