Transcript #00025586 (NM_152263.3, TPM3 gene)

Transcript name transcript variant 1
Gene name TPM3 (tropomyosin 3)
Chromosome 1
Transcript - NCBI ID NM_152263.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689476.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

85 entries on 1 page. Showing entries 1 - 85.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. ? c.? r.? p.?
+/. - c.-117_*6124{0} NM_002609.3:r.-469_1579::NM_153649.3:r.665_*2326 p.?
+/. 8i c.776_*6124{0} r._-117_775::NM_002609.3:r.1580_*1924 p.?
+?/. 1 c.7G>C r.(?) p.(Glu3Gln)
+?/. 1 c.11C>T r.(?) p.(Ala4Val)
+?/. 1 c.11C>T r.(?) p.(Ala4Val)
+/. 1 c.(26T>G) r.26u>g p.Met9Arg
+/. 1 c.26T>G r.(?) p.Met9Arg
+/. 1 c.26T>G r.(?) p.Met9Arg
+/. 1 c.26T>G r.(?) p.Met9Arg
+/. 1 c.26T>G r.(?) p.Met9Arg
+/. 1 c.26T>G r.(?) p.Met9Arg
+/. 1 c.26T>G r.(?) p.(Met9Arg)
?/. 1 c.43G>C r.(?) p.(Asp15His)
?/. - c.64C>T r.(?) p.(Arg22Trp)
?/. 1 c.65G>A r.(?) p.(Arg22Gln)
-/. 1 c.92A>C r.(?) p.(Lys31Thr)
+/. 1 c.94C>T r.(?) p.(Gln32*)
+/. 1 c.94C>T r.(?) p.(Gln32*)
?/. - c.117+1G>A r.spl? p.?
?/. - c.119T>G r.(?) p.(Leu40Arg)
+?/. 2 c.238G>C r.(?) p.(Ala80Pro)
-/. 2i c.244-5T>C r.(=) p.(=)
-/. 3 c.249G>A r.(?) p.(=)
+?/. 3 c.263C>T r.(?) p.(Ser88Phe)
+?/. 3 c.271C>T r.(?) p.(Arg91Cys)
+?/. 3 c.272G>C r.(?) p.(Arg91Pro)
+/. 3 c.298C>A r.(?) p.(Leu100Met)
?/. 3 c.298C>G r.(?) p.(Leu100Val)
-/. 3 c.327T>G r.(?) p.(=)
?/. - c.445C>A r.(=) p.(Leu149Ile)
+?/. 4 c.452A>C r.(?) p.(Glu151Ala)
+?/. 4 c.456_458dup r.(?) p.(Ala152_Lys153insAsn)
+?/. 4 c.456_458dup r.(?) p.(Ala152_Lys153insAsn)
+/. 4 c.466G>A r.(?) p.(Ala156Thr)
+/. 4 c.466G>A r.(?) p.(Ala156Thr)
+/. - c.502C>G r.(?) p.(Arg168Gly)
+?/. - c.502C>G r.(?) p.(Arg168Gly)
+/. 5 c.502C>G r.(?) p.(Arg168Gly)
+/. - c.502C>T r.(?) p.(Arg168Cys)
+?/. - c.502C>T r.(?) p.(Arg168Cys)
+?/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+/. 5 c.502C>T r.(?) p.(Arg168Cys)
+?/. - c.503G>A r.(?) p.(Arg168His)
+/. 5 c.503G>A r.(?) p.(Arg168His)
+/. 5 c.503G>A r.(?) p.(Arg168His)
+?/. 5 c.503G>A r.(?) p.(Arg168His)
+/. 5 c.503G>A r.(?) p.(Arg168His)
+/. 5 c.503G>A r.(0) p.(Arg168His)
+?/. 5 c.503G>A r.(?) p.(Arg168His)
+?/. 5 c.503G>A r.(?) p.(Arg168His)
+/. 5 c.503G>A r.(?) p.(Arg168His)
+/. 5 c.503G>A r.(?) p.(arg168His)
+/. 5 c.503G>A r.(?) p.(Arg168His)
+/. 5 c.505A>G r.(?) p.(Lys169Glu)
+/. 5 c.521A>C r.(?) p.(Glu174Ala)
+/. 4 c.535C>G r.(?) p.(Arg179Gly)
?/. - c.567-98_567-97dup r.(=) p.(=)
?/. 6i c.642+4G>T r.spl? p.?
?/. 8 c.709G>A r.(?) p.(Glu237Lys)
+?/. 8 c.721G>A r.(?) p.(Glu241Lys)
+/. 8 c.733A>G r.(?) p.(Arg245Gly)
?/. - c.737C>T r.(?) p.(Ser246Leu)
?/. 8 c.758C>A r.(?) p.(Thr253Lys)
-/. 8i c.776-49T>C r.(?) p.(=)
-/. - c.776-49T>C r.(=) p.(=)
+/. 9i c.855-1G>A r.855_*6123delins*10216_*12633 p.=
+/. 10 c.855del r.(?) p.(*286Asnext*74)
+/. 10 c.855del r.(?) p.(*286Asnext*74)
+/. 10 c.855del r.(?) p.(*286Asnext*74)
+/. 10 c.855del r.(?) p.(*286Asnext*74)
+/. 10 c.855del r.855del p.*286Asnext*74
+/. 10 c.855del r.855del p.*286Asnext*74
+/. 10 c.857A>C r.(?) p.(*286Serext*?)
+/. 10 c.857A>C r.(?) p.(*286Serext*?)
+/. 10 c.857A>C r.(?) p.(*286Serext*?)
+?/. 10 c.857A>C r.(?) p.(*286Serext*?)
+?/. 10 c.857A>C r.(?) p.(*286Serext*?)
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