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Table 2 Results of mutation analysis

From: Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

Mutation Reference Predicted change on protein level Type Exon/Intron Domain No of families (affected/unaffected)
c.113_130del18 [15] p. Arg38_Ser43del Deletion (in-frame deletion) Exon 2 Basic Domain 1 (2+/1-)
c.356_357delTT Novel p. Phe119X* Deletion (nonsense) Exon 3 Basic Domain 1 (2+/2-)
c.815 T > C [16] p. Leu272Pro Substitution (missense) Exon 8 GTPase Domain 1 (1+)
c.983A > G [16] p. Val291_Lys328del Substitution (splice, deletion in-frame) Exon 9 GTPase Domain 10 (43+/5-)
c.984 G > A [11, 16] p. Lys328Lys Substitution (splice) Exon 9 GTPase Domain 1 (1+)
c.984 + 1 G > T Novel Unknown Substitution (splice) Intron 9 GTPase Domain 1 (1+)
c.1140 + 1 G > T Novel Unknown Substitution (splice) Intron 11 GTPase Domain 1 (1+)
c.1304_1305delGT [15] p. Cys435Tyrfs*9 Deletion (frameshift with premature stop) Exon 13 GTPaseDomain 1 (4+)
c.1313A > C Novel p. Asp438Asp Substitution (missense*) Exon 14 GTPase Domain 1 (1+)
c.1376 G > A Novel p. Gly459Glu Substitution (missense) Exon 14 GTPase Domain 1 (1+/2-)
c.1544_1545delTA Novel p. Ile515Lysfs*4 (novel) Deletion (frameshift with premature stop) Exon 16 Dynamin Central Region 1 (1+/1-)
c.1665_1666insA Novel p. Met555Asnfs*7 Insertion (frameshift with premature stop) Exon 17 Dynamin Central Region 1 (2+)
c.1687 C > T Novel p. Gln563X* Substitution (nonsense) Exon 17 Dynamin Central Region 1 (2+)
c.1983_1985delinsGG Novel p. Asp662Valfs*9 Deletion/insertion (frameshift with premature stop) Exon 20 Dynamin Central Region 1 (1+)
c.2013 + 1 G > C Novel Unknown Substitution (splice) Intron 20 Dynamin Central Region 1 (2+)
c.2496 + 4_2496 + 5 delinsGTAAC Novel Unknown Deletion/insertion (splice*) Intron 24 Dynamin Central Region 1 (5+/1-)
c.2470 C > T [17] p. Arg824X* Substitution (nonsense) Exon 24 Dynamin Central Region 1 (1+)
c.2496 G > C Novel p. Leu832Phe/splice Substitution (splice*) Exon 24 Dynamin Central Region 1 (1+/3-)
c.2613 + 1 G > C Novel Unknown Substitution (splice) Intron 25   1 (2+/2-)
c.2614-9A > G [18] Unknown Substitution (splice) Intron 25   1 (7+)
c.2707 + 1 G > C Novel Unknown Substitution (splice) Intron26   4 (5+/1-)
c.2708_2711delTTAG [2, 911, 15, 16, 1921] p. Val903Glyfs*3 Deletion (frameshift with premature stop*) Exon 27   11 (29+/14-)
c.2713 C > T [10] p. Arg905X* Substitution (nonsense) Exon 27   1 (2+)
c.2728_2730 delGTT Novel p. Val910del Deletion (in-frame deletion) Exon 27   1 (8+/1-)
c.2826_2836delins GGATGCTCCA [15, 19] p. Arg943Aspfs*25 Deletion/insertion (frameshift with extension) Exon 28   28 (58+/18-)
  1. *Based on silico analysis pathogenic. Chromatographs for novel mutations are shown in Additional file 4.