Transcript #00001969 (NM_001098.2, ACO2 gene)

Transcript name aconitase 2, mitochondrial
Gene name ACO2 (aconitase 2, mitochondrial)
Chromosome 22
Transcript - NCBI ID NM_001098.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001089.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

323 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1 c.-504T>C r.(?) p.(=)
?/. _1 c.-494T>A r.(?) p.(=)
?/. _1 c.-494T>A r.(?) p.(=)
+/. 1i c.36+5del r.spl? p.?
+/. 1i c.36+5del r.spl? p.?
-/. 2 c.72A>G r.(?) p.(=)
-/. 2 c.72A>G r.(?) p.(Ser24=)
-/. 2 c.84A>G r.(?) p.(Gln28=)
-/. 2 c.84A>G r.(?) p.(=)
+/. 2 c.166C>T r.(?) p.(Arg56Cys)
+/. 2 c.166C>T r.(?) p.(Arg56Cys)
+/. 2 c.172C>T r.(?) p.(Arg58*)
+/. 2 c.172C>T r.(?) p.(Arg58*)
-?/. 3 c.180C>G r.(?) p.(Asn60Lys)
-?/. 3 c.180C>G r.(?) p.(Asn60Lys)
-/. 3 c.192A>C r.(?) p.(=)
-/. 3 c.192A>C r.(?) p.(Thr64=)
-/. 3 c.192A>C r.(?) p.(Thr64=)
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10)
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10)
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10)
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10)
+/. 3 c.196_197del r.(?) p.(Ser66Glyfs*10)
-/? 3 c.220C>G r.(?) p.(Leu74Val)
?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+/. 3 c.220C>G r.(?) p.(Leu74Val)
+/. 3 c.220C>G r.(?) p.(Leu74Val)
+/. 3 c.220C>G r.(?) p.(Leu74Val)
-/? 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
-/+? 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
-/+? 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
+?/. 3 c.220C>G r.(?) p.(Leu74Val)
?/. 3 c.220C>G r.(?) p.(Leu74Val)
-/. 3 c.231C>T r.(?) p.(=)
-/. 3 c.231C>T r.(?) p.(Pro77=)
+/. 3 c.275G>A r.(?) p.(Arg92Gln)
+/. 3 c.275G>A r.(?) p.(Arg92Gln)
-/. 3 c.282C>T r.(?) p.(=)
-?/. 3 c.282C>T r.(?) p.(Asp94=)
-/. 3 c.282C>T r.(?) p.(Asp94=)
?/. 3 c.316G>A r.(?) p.(Ala106Thr)
?/. 3 c.316G>A r.(?) p.(Ala106Thr)
+/. 3 c.323T>C r.(?) p.(Leu108Pro)
+/. 3 c.323T>C r.(?) p.(Leu108Pro)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+?/. 3 c.336C>G r.(?) p.(Ser112Arg)
+/. 3 c.336C>G r.(?) p.(Ser112Arg)
+/. 3 c.336C>G r.(?) p.(Ser112Arg)
?/. - c.365C>T r.(?) p.(Ser122Phe)
-/. 3i c.432+19T>C r.(=) p.(=)
-/. 3i c.432+19T>C r.(=) p.(=)
+/. 4 c.441C>G r.(?) p.(Asn147Lys)
+/. 4 c.441C>G r.(?) p.(Asn147Lys)
+/. 4 c.441C>G r.(?) p.(Asn147Lys)
-/+? 4 c.441C>G r.(?) p.(Asn147Lys)
+/. 4 c.487G>A r.(?) p.(Val163Met)
+/. 4 c.487G>A r.(?) p.(Val163Met)
+/. 4 c.487G>T r.(?) p.(Val163Leu)
+/. 4 c.487G>T r.(?) p.(Val163Leu)
+/. 4 c.487G>T r.(?) p.(Val163Leu)
+/. 4 c.514A>C r.(?) p.(Ile172Leu)
+/. 4 c.514A>C r.(?) p.(Ile172Leu)
+/. 4i c.525+1G>A r.spl? p.?
+/. 4i c.525+1G>A r.spl? p.?
-?/. 4i c.525+6G>A r.(=) p.(=)
-?/. 4i c.525+6G>A r.(=) p.(=)
+/. 4i c.526-2A>G r.spl? p.?
+/. 4i c.526-2A>G r.spl? p.?
-/. 5 c.573T>C r.(?) p.(Thr191=)
-/. 5 c.573T>C r.(?) p.(=)
+?/. 4 c.575A>G r.(?) p.(Asp192Gly)
+?/. 4 c.575A>G r.(?) p.(Asp192Gly)
+/. 4 c.610A>C r.(?) p.(Ile204Leu)
+/. 4 c.610A>C r.(?) p.(Ile204Leu)
-/. 4 c.670C>T r.(?) p.(Leu224=)
-/. 4 c.670C>T r.(?) p.(=)
+/. 4 c.680C>A r.(?) p.(Pro227His)
+/. 4 c.680C>A r.(?) p.(Pro227His)
+/. 5i c.684+1G>T r.spl? p.?
+/. 5i c.684+1G>T r.spl? p.?
+/. 6 c.718G>A r.(?) p.(Gly240Ser)
+/. 6 c.718G>A r.(?) p.(Gly240Ser)
+/. 6 c.718G>A r.(?) p.(Gly240Ser)
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