Transcript #00023887 (NM_015560.2, OPA1 gene)

Transcript name transcript variant 1
Gene name OPA1 (optic atrophy 1 (autosomal dominant))
Chromosome 3
Transcript - NCBI ID NM_015560.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_056375.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

950 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
+?/. - c.(1847+1_1848-1)_*321{0} r.(?) p.(0?) -
+/+? - c.(2166+1_2167-1)_(2275+1_2276_1)del r.? p.? -
?/. - c.-277C>T r.(?) p.(=) -
+/+? - c.(?_-234)_(32+1_33-1)del r.? p.? -
?/. - c.-8C>T r.(?) p.(=) -
?/. - c.-3G>A r.(?) p.(=) -
./. - c.(?_-1)_(624+1_625-1)del r.0? p.0? -
./. - c.(?_-1)_(2818+1_2819-1)del r.0? p.0? -
./. - c.(?_-1)_(*3211_?)del r.0? p.0? -
./. - c.(1847+1_1848-1)_(2355 +1_2356-1)dup r.? p.? -
+/+? _1_29_ c.0 r.0 p.0 -
+/+? _1_29_ c.0 r.0 p.0 -
+/+? _1_29_ c.0 r.0 p.0 -
+/+? _1_29_ c.0 r.0 p.0 -
+/+? _1_29_ c.0 r.0 p.0 -
+/+? _1_29_ c.0 r.0 p.0 -
+/+? _1_29_ c.0 r.0 p.0 -
+/. - c.1A>T r.(?) p.(Met1?) -
./. - c.3G>A r.(?) p.(Met1?) -
+/+? - c.3G>A r.(?) p.(Met1?) -
./. - c.3G>T r.(?) p.(Met1?) -
./. - c.6G>A r.(?) p.(Trp2*) -
+?/+? 1 c.7C>T r.(?) p.(Arg3*) -
+?/? 1 c.9_14del r.(?) p.(Leu4_Arg5del) -
./. - c.22G>T r.(?) p.(Ala8Ser) -
+/+? - c.30del r.(?) p.(Cys11Valfs*7) -
?/. - c.32+24C>G r.(?) p.(=) -
./. - c.32+87del r.(?) p.(=) -
./. - c.32+97G>A r.(?) p.(=) -
-?/. - c.33-4T>G r.spl? p.? -
+/+? - c.33T>A r.(?) p.(Cys11*) -
+/+? - c.(32+1_33-1)_(351+1_352-1)dup r.? p.? -
./. - c.(32+1_33-1)_(448+1_449-1)del r.spl p.? -
./. - c.(32+1_33-1)_(2818+1_2819-1)dup r.? p.? -
./. - c.43C>A r.(?) p.(Gln15Lys) -
+/-? - c.43C>A r.(?) p.(Gln15Lys) -
-/. - c.43C>A r.(?) p.(Gln15Lys) -
+?/. - c.50del r.(?) p.(Leu17*) -
+/+? - c.50T>G r.(?) p.(Leu17*) -
-?/. 2 c.60_61del r.(?) p.(His20Glnfs*52) Basic
./. - c.70A>G r.(?) p.(Ile24Val) -
-?/. - c.70A>G r.(?) p.(Ile24Val) -
-?/. - c.70A>G r.(?) p.(Ile24Val) -
-?/. - c.70A>G r.(?) p.(Ile24Val) -
+/+? - c.71_73delinsAG r.(?) p.(Ile24Lysfs*25) -
+?/. - c.73A>T r.(?) p.(Lys25*) -
+?/. - c.86del r.(?) p.(Pro29HisfsTer20) -
-?/. - c.88C>T r.(?) p.(Leu30=) -
+/+? 2 c.91C>T r.(?) p.(Gln31*) -
./. - c.112C>T r.(?) p.(Arg38*) -
+?/. 2 c.112C>T r.? p.(Arg38*) Basic
./. - c.113_130del r.(?) p.(Arg38_Ser43del) -
./. - c.113_130del r.(?) p.(Arg38_Ser43del) -
-/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) -
./. - c.113_130del r.(?) p.(Arg38_Ser43del) -
./. - c.113_130del r.(?) p.(Arg38_Ser43del) -
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) -
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) -
-?/. - c.113_130del r.(?) p.(Arg38_Ser43del) -
+/+? - c.113_130del r.(?) p.(Arg38_Ser43del) -
?/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) -
?/? 2 c.113_130del r.(?) p.(Arg38_Ser43del) -
+/+ 2 c.132dup r.(?) p.(His45Serfs*28) -
+/+? - c.143T>G r.(?) p.(Leu48*) -
./. - c.154C>T r.(?) p.(Arg52*) -
+/+? 2 c.181C>T r.(?) p.(Gln61Ter) -
./. - c.181C>T r.(?) p.(Gln61*) -
-?/. - c.182A>G r.(?) p.(Gln61Arg) -
./. - c.190del r.(?) p.(Ser64Leufs*2) -
+/+? - c.190del r.(?) p.(Ser64Leufs*2) Basic (exon 1-3)
+?/+? - c.190_194del r.(?) p.(Ser64Aspfs*7) -
-/-? - c.190_194del r.(?) p.(Ser64Aspfs*7) -
+/+ 2 c.193_194del r.(?) p.(Leu65Aspfs*7) -
+/+ 2 c.209T>A r.(?) p.(Leu70*) -
+/+ 2 c.224del r.(?) p.(Phe75Serfs*19) -
+/+ 2 c.224del r.(?) p.(Phe75Serfs*19) -
-?/. - c.237A>G r.(?) p.(Lys79=) -
-?/. - c.238T>C r.(?) p.(Tyr80His) -
./. - c.239A>G r.(?) p.(Tyr80Cys) -
-?/. - c.239A>G r.(?) p.(Tyr80Cys) -
+/+? - c.239A>G r.(?) p.(Tyr80Cys) -
?/. - c.245A>G r.(?) p.(Tyr82Cys) -
+/+? - c.245A>G r.(?) p.(Tyr82Cys) -
-?/. - c.254G>A r.(?) p.(Arg85His) -
+/+ 2 c.262_263delinsC r.(?) p.(Phe88Leufs*6) -
./. - c.267G>A r.(?) p.(Trp89*) -
./. - c.284C>T r.(?) p.(Thr95Met) -
?/. - c.284C>T r.(?) p.(Thr95Met) -
+?/. - c.295_301dup r.(?) p.(Arg101GlnfsTer22) -
./. - c.305A>G r.(?) p.(Tyr102Cys) -
+/+? - c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3)
./. - c.321G>A r.(?) p.(=) -
./. - c.321G>A r.(?) p.(=) -
./. - c.344C>T r.(?) p.(Ala115Val) -
+/+? - c.344C>T r.(?) p.(Ala115Val) -
?/. 3 c.356T>C r.(?) p.(Phe119Ser) Basic
./. - c.356_357del r.(?) p.(Phe119*) -
./. - c.357del r.(?) p.(Phe119Leufs*7) -
./. - c.361C>T r.(?) p.(Gln121*) -
+?/+? - c.374T>C r.(?) p.(Met125Thr) -
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