View unique variants - MITOchondrial DYNamics variation pages

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About this overview [Show]

The variants below are all in the OPA1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the OPA1 full legend here.

278 entries
entries per page

DB-ID

DNA change

Type

Location

Exon

Affected domain

RNA change

Protein

Reference

Technique

Template

Tissue

Re-site

DNA change/variant 1

Exon/variant 1

Protein/isoform 1

DNA published

Variant remarks

Frequency


OPA1_00144	NM_130837.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2:c.1-?_678+?del	Deletion	Exon	1-6	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.22G>T	Substitution	Exon	1	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.6G>A	Substitution	Exon	1	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.112C>T	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.113_130del	Deletion	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.154C>T	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.181C>T	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.190del	Deletion	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.239A>G	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.284C>T	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2:c.305A>G	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2:c.344C>T	Substitution	Exon	2	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.361C>T	Substitution	Exon	3	Basic (exons 1-3)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2: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_00043	NM_130837.2:c.473A>G	Substitution	Exon	4	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.478G>C	Substitution	Exon	4	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.500C>T	Substitution	Exon	4	Non-specific domain	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2:c.629C>T	Substitution	Exon	6	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.740G>A	Substitution	Exon	7	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.768C>G (Reported 2 times)	Substitution	Exon	7	Non-specific domain	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.794C>A	Substitution	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.796_799del	Deletion	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.800_801del (Reported 2 times)	Deletion	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.800_803del	Deletion	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.804_805del	Deletion	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.830T>C	Substitution	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.893T>A	Substitution	Exon	8	Non-specific domain	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.868C>T	Substitution	Exon	9	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.889G>T	Substitution	Exon	9	Non-specific domain	-	NP_570850.2: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	NM_130837.2:c.898A>T	Substitution	Exon	9	Non-specific domain	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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_00255	NM_130837.2:c.1019A>G	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1033C>T	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1034G>A	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1034G>T	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2:c.1035+5G>A	Substitution	Intron	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	-
OPA1_00051	NM_130837.2: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	NM_130837.2:c.959_962del	Deletion	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.968A>G	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.971C>T	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.973G>A	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.980T>C	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.983A>C	Substitution	Exon	10	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.1041_1043del	Deletion	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1043_1048del	Deletion	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1054C>T	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1064G>A	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1094A>G	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1097del	Deletion	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1099C>T	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1102_1103delinsGA	Insertion/Deletion	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1111A>T	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1135_1143del	Deletion	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1148A>G	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1148_1149+3del	Deletion	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2:c.1149G>A	Substitution	Exon	11	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1150-1G>A	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_00021	NM_130837.2:c.1183del	Deletion	Exon	12	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1204G>T	Substitution	Exon	12	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.1230+2T>C	Substitution	Intron	12	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2: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	NM_130837.2:c.1234G>A	Substitution	Exon	13	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1236A>G	Substitution	Exon	13	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2:c.1237_1258del	Deletion	Exon	13	GTPase (exons 10-17)	-	NP_570850.2: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	NM_130837.2: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	NM_130837.2:c.1261C>T	Substitution	Exon	13	GTPase (exons 10-17)	-	NP_570850.2: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	-
OPA1_00250	NM_130837.2:c.1291A>G	Substitution	Exon	13	GTPase (exons 10-17)	-	NP_570850.2:p.(Thr431Ala)	Cohn et al. (2007)	SEQ	DNA	Blood	-	NM_015560.2:c.1126A>G	11	NP_056375.2:p.(Thr376Ala)	-	eOPA1 identifier (obsolete):OA_00263; Nucleotide change: A to G at 1126 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature	-
OPA1_00008	NM_130837.2:c.1305+1G>A	Substitution	Intron	13	GTPase (exons 10-17)	-	p.?	Baris et al. (2003)	SEQ	DNA	Blood	-	NM_015560.1:c.1140+1G>A	11	-	-	eOPA1 identifier (obsolete):OA_00009; Nucleotide change: G to A at 1140+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Possible in-frame skipping of exon 11, loss of 25 aa (reference: OPA1 isoform 1, NP_056375.1)	-
OPA1_00172	NM_130837.2:c.1305+5G>C	Substitution	Intron	13	GTPase (exons 10-17)	-	p.?	Ferre et al. (2009)	SEQ	DNA	Blood	-	NM_015560.1:c.1140+5G>C	11	-	-	eOPA1 identifier (obsolete):OA_00181; Nucleotide change: G to C at 1140+5 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect	-
OPA1_00151	NM_130837.2:c.1305G>A	Substitution	Exon	13	GTPase (exons 10-17)	-	NP_570850.2:p.(Leu411_Glu435del)	Schimpf et al. (2006)	SEQ	DNA	Blood	-	NM_015560.1:c.1140G>A	11	NP_056375.1:p.(Leu356_Glu380del)	-	eOPA1 identifier (obsolete):OA_00161; Nucleotide change: G to A at 1140 (reference: OPA1 transcript variant 1, NM_015560.1)	-
OPA1_00174	NM_130837.2:c.1311A>G	Substitution	Exon	14	GTPase (exons 10-17)	-	NP_570850.2:p.(Ile437Met)	Ferre et al. (2009)	SEQ	DNA	Blood	-	NM_015560.1:c.1146A>G	12	NP_056375.1:p.(Ile382Met)	-	eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)	-
OPA1_00029	NM_130837.2:c.1317A>C	Substitution	Exon	14	GTPase (exons 10-17)	-	NP_570850.2:p.(Leu439Phe)	Toomes et al. (2001)	SEQ	DNA	Blood	-	NM_015560.1:c.1152A>C	12	NP_056375.1:p.(Leu384Phe)	-	eOPA1 identifier (obsolete):OA_00031; Nucleotide change: A to C at 1152 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature	-
OPA1_00096	NM_130837.2:c.1318_1319del	Deletion	Exon	14	GTPase (exons 10-17)	-	NP_570850.2:p.(Asn440Cysfs*13)	Pesch et al. (2001)	SEQ	DNA	Blood	-	NM_015560.1:c.1153_1154del	12	NP_056375.1:p.(Asn385Cysfs*13)	-	eOPA1 identifier (obsolete):OA_00106; Nucleotide change: Deletion of AA at 1152_1153 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature	-
OPA1_00221	NM_130837.2:c.1352T>C	Substitution	Exon	14	GTPase (exons 10-17)	-	NP_570850.2:p.(Leu451Pro)	Ferre et al. (2009)	SEQ	DNA	Blood	-	NM_015560.1:c.1187T>C	12	NP_056375.1:p.(Leu396Pro)	-	eOPA1 identifier (obsolete):OA_00230; Nucleotide change: T to C at 1187 (reference: OPA1 transcript variant 1, NM_015560.1)	-

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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.
OPA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. DNA change: 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.

MITOchondrial DYNamics variation pages

optic atrophy 1 (autosomal dominant) (OPA1)