Transcript #00013975 (NM_005259.2, MSTN gene)

Transcript name myostatin
Gene name MSTN (myostatin)
Chromosome 2
Transcript - NCBI ID NM_005259.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005250.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

73 entries on 1 page. Showing entries 1 - 73.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-137394C>A r.(?) p.(=)
-/. 1 c.-762A>G r.(?) p.(=)
-/. 1 c.-762A>G r.(?) p.(=)
-/. 1 c.-335G>A r.(?) p.(=)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.163G>A r.(?) p.(Ala55Thr)
-/. 1 c.180C>T r.(?) p.(=)
-/. 1 c.194G>A r.(?) p.(Arg65His)
+?/. 1 c.283G>C r.(?) p.(Asp95His)
-/. 1 c.306C>T r.(?) p.(=)
-/. 1 c.307G>A r.(?) p.(Asp103Asn)
+/. 1i c.373+5G>A r.[373_374ins373+1_373+108; 373+5g>a] p.Ser125Cysfs*3
+/. 1i c.373+5G>A r.[373_374ins373+1_373+108; 373+5g>a] p.Ser125Cysfs*3
+/. 1i c.373+5G>A r.[373_374ins373+1_373+108; 373+5g>a] p.Ser125Cysfs*3
+?/. 1i c.373+5G>A r.(?) p.Ser125Cysfs*3
+/. 1i c.373+5G>A r.[373_374ins373+1_373+108; 373+5g>a] p.Ser125Cysfs*3
+/. 1i c.373+5G>A r.[373_374ins373+1_373+108; 373+5g>a] p.Ser125Cysfs*3
+/. 1i c.373+5G>A r.(?) p.Ser125Cysfs*3
-/. 1i c.373+90del r.(=) p.(=)
-/. 1i c.373+90del r.(=) p.(=)
-/. 2 c.386T>G r.(?) p.(Met129Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
+?/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. - c.458A>G r.(?) p.(Lys153Arg)
-/. - c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
+?/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-/. 2 c.458A>G r.(?) p.(Lys153Arg)
-?/. - c.466C>A r.(?) p.(Leu156Ile)
+?/. 2 c.466C>A r.(?) p.(Leu156Ile)
-?/. - c.482G>T r.(?) p.(Arg161Ile)
-/. 2 c.490G>A r.(?) p.(Glu164Lys)
-/. 2 c.490G>A r.(?) p.(Glu164Lys)
?/. 2 c.490G>A r.(?) p.(Glu164Lys)
-/. 2 c.490G>A r.(?) p.(Glu164Lys)
?/. 2 c.554G>C r.(?) p.(Arg185Thr)
-/. 2 c.592C>G r.(?) p.(Pro198Ala)
-/. 2 c.592C>G r.(?) p.(Pro198Ala)
+/. 2 c.(669_680del) r.669_680del p.(Gly224_Ile227del)
-/. 2 c.674T>C r.(?) p.(Ile225Thr)
-?/. - c.674T>C r.(?) p.(Ile225Thr)
-?/. - c.674T>C r.(?) p.(Ile225Thr)
-/. 2i c.747+8A>G r.(?) p.(=)
+?/. 2i c.747+8A>G r.(?) p.(=)
+/. 2i c.(747+1_748-1)_(*1_?)delins(?) r.? p.?
+/. 3 c.(818_828del) r.(?) p.(Glu274Argfs*14)
+/. 3 c.(871G>T) r.(?) p.(Glu291*)
+/. 3 c.(939_940del) r.(?) p.(Cys313*)
+/. 3 c.(939_940del) r.(?) p.(Cys313*)
-/. 3 c.1062T>C r.(?) p.(=)
?/. 3 c.*1136_*1137del r.(?) p.(=)
+/. 3 c.(*1274G>A) r.(*1274g>a) p.(0)
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