Transcript #00015048 (NM_130837.2, OPA1 gene)

Transcript name transcript variant 8
Gene name OPA1 (optic atrophy 1 (autosomal dominant))
Chromosome 3
Transcript - NCBI ID NM_130837.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_570850.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+?/. - c.? r.(?) p.? -
+?/. - c.? r.? p.? -
-/-? - c.? r.(?) p.(=) Basic (exons 1-3)
-/-? - c.? r.(?) p.(=) Basic (exons 1-3)
?/. 8 c.? r.? p.? -
+/+? - c.(?_-234)_(32+1_33-1)del r.? p.? -
?/. - c.-8C>T r.(?) p.(=) -
?/. - c.-3G>A r.(?) p.(=) -
+/+? _1_6i c.(?_-1)_(678+1_679-1)del r.0? p.0? Basic (exons 1-3)
+/+? _1_29i c.(?_-1)_(2983+1_2984-1)del r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
+/+? _1_31_ c.(?_-1)_(*3211_?)del r.0? p.0? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
+/+? _30_31_ c.(2983+1_ 2984-1)_(*3212_?)del r.(?) p.? -
+/+? _1_31 c.0 r.0 p.0 -
+/+? _1_31 c.0 r.0 p.0 -
+/+? _1_31 c.0 r.0 p.0 -
+/+? _1_31_ c.0 r.0 p.0 -
+/+? _1_31_ c.0 r.0 p.0 -
+/+? _1_31_ c.0 r.0 p.0 -
+/+? _1_31_ c.0 r.0 p.0 -
+?/. - c.2778+521_*3211{0} r.? p.? -
+/. - c.1A>T r.(?) p.(Met1?) -
+?/? 1 c.3G>A - p.0? Basic (exons 1-3)
+/+? - c.3G>A r.(?) p.(Met1?) -
+?/? 1 c.3G>T - p.0? Basic (exons 1-3)
+/+? 1 c.6G>A r.(?) p.(Trp2*) Basic (exons 1-3)
+?/+? 1 c.7C>T r.(?) p.(Arg3*) -
+?/? 1 c.9_14del r.(?) p.(Leu4_Arg5del) -
+/+? 1 c.22G>T r.(?) p.(Ala8Ser) Basic (exons 1-3)
+/+? - c.30del r.(?) p.(Cys11Valfs*7) -
?/. 1i c.32+24C>G r.(?) p.(=) -
?/? 1i c.32+87del r.(?) p.(=) Non-specific domain
-/-? 1i c.32+97G>A r.(?) p.(=) Basic (exons 1-3)
-?/. - 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.? -
+?/+? 1i_3i c.(32+1_33-1)_(448+1_449-1)del r.spl p.? Basic (exons 1-3)
+?/+? 1i_29i c.(32+1_33-1)_(2983+1_2984-1)dup r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
-?/? 2 c.43C>A r.(?) p.(Gln15Lys) Basic (exons 1-3)
+/-? - c.43C>A r.(?) p.(Gln15Lys) -
-/. - c.43C>A r.(?) p.(Gln15Lys) -
+/+? - c.50T>G r.(?) p.(Leu17*) -
+?/. 2 c.60_61del r.(?) p.(His20Glnfs*52) Basic
-?/? 2 c.70A>G r.(?) p.(Ile24Val) Basic (exons 1-3)
-?/. - 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.88C>T r.(?) p.(Leu30=) -
+/+? 2 c.91C>T r.(?) p.(Gln31*) -
+/+? 2 c.112C>T r.(?) p.(Arg38*) Basic (exons 1-3)
+?/. 2 c.112C>T r.? p.(Arg38*) Basic
+/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
+/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
-/. 2 c.113_130del r.(?) p.(Arg38_Ser43del) -
+?/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
+/+? 2 c.113_130del r.(?) p.(Arg38_Ser43del) Basic (exons 1-3)
?/. 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*) -
+/+? 2 c.154C>T r.(?) p.(Arg52*) Basic (exons 1-3)
+/+? 2 c.181C>T r.(?) p.(Gln61Ter) -
+/+? 2 c.181C>T r.(?) p.(Gln61*) Basic (exons 1-3)
-?/. - c.182A>G r.(?) p.(Gln61Arg) -
+/+? 2 c.190del r.(?) p.(Ser64Leufs*2) Basic (exons 1-3)
+/+? 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) -
+/+? 2 c.239A>G r.(?) p.(Tyr80Cys) Basic (exons 1-3)
-?/. - c.239A>G r.(?) p.(Tyr80Cys) -
+/+? 2 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) -
+/+? 2 c.267G>A r.(?) p.(Trp89*) Basic (exons 1-3)
+?/. - c.275G>C r.(?) p.(Arg92Thr) -
+/+? 2 c.284C>T r.(?) p.(Thr95Met) Basic (exons 1-3)
?/. - c.284C>T r.(?) p.(Thr95Met) -
+/+? 2 c.305A>G r.(?) p.(Tyr102Cys) Basic (exons 1-3)
+/+? 2 c.305A>G r.(?) p.(Tyr102Cys) Basic (exon 1-3)
-?/-? 2 c.321G>A r.(?) p.(=) Basic (exons 1-3)
-/-? 2 c.321G>A r.(?) p.(=) Basic (exons 1-3)
?/. - c.344C>T r.(?) p.(Ala115Val) -
+/+? 2 c.344C>T r.(?) p.(Ala115Val) Basic (exons 1-3)
+/+? - c.344C>T r.(?) p.(Ala115Val) -
?/. 3 c.356T>C r.(?) p.(Phe119Ser) Basic
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