Transcript #00014025 (NM_000252.2, MTM1 gene)

Transcript name myotubularin 1
Gene name MTM1 (myotubularin 1)
Chromosome X
Transcript - NCBI ID NM_000252.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000243.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

576 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. 1 c.-164C>T r.(=) p.(=)
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0?
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0?
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0?
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0?
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0?
+/. _1_1i c.(?_-76)_(-11+1_-10-1)del r.0? p.0?
+/. _1_5i_ c.(?_-76)_(342+1_343-1)dup r.343_444del p.Asp115_Leu148del
+/. _1_7i c.(?_-76)_(528+1_529-1)del r.0? p.0?
+/. _1_13i c.(?_-76)_(1467+1_1468-1)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. _1_15_ c.(?_-76)_(*1548_?)del r.0? p.0?
+/. 2 c.(?_-10)_63+?del r.(?) p.0?
+/. 2_6 c.(?_-10)_441+?del r.1-10_441del p.0?
+/. 2_8 c.(?_-10)_678+?del r.(?) p.0?
+?/. - c.(?_-10)_*1548{0} r.0? p.0?
+/. 10 c.[1053+114_1053+2680del; 1053+3055_1053+3056ins679-82_1053+37] r.868_1053dup p.Ala290_Lys351dup
+/. 2 c.1A>G r.(?) p.0?
+/. 2 c.2T>A r.(?) p.0?
+/. 2 c.2T>G r.(?) p.0?
+/. 2 c.19del r.(?) p.(Ser7Leufs*37)
+/. 2 c.27T>A r.(?) p.(Tyr9*)
-?/. - c.27T>C r.(?) p.(Tyr9=)
+/. 2 c.27T>G r.(?) p.(Tyr9*)
+/. 2 c.32C>A r.(?) p.(Ser11*)
+/. 2 c.32C>G r.(?) p.(Ser11*)
+/. 2 c.48_49insA r.(?) p.(Glu17Argfs*4)
+/. 2 c.49G>T r.(?) p.(Glu17*)
+/. 2 c.49G>T r.(?) p.(Glu17*)
+/. 2 c.58A>T r.(?) p.(Lys20*)
+/. 2i c.63+1G>A r.spl p.?
+/. 2i c.63+2T>C r.1-10_63del p.(?)
+/. 2i c.63+2T>C r.1-10_63del p.(?)
+/. 2i c.63+2T>G r.spl p.?
?/. - c.63+7del r.(=) p.(=)
+/. 2i_14i c.63+834_1645-2104del r.(?) p.(Thr22_Gln548del)
?/. 2i c.64-50A>T r.(?) p.(=)
-/. 2i c.64-50A>T r.(=) p.(=)
-?/. 2i c.64-50_64-49del r.(=) p.(=)
-?/. 2i c.64-50_64-49del r.(?) p.(?)
-/. 2i c.64-14T>C r.(=) p.(=)
+/. 2i c.64-2A>G r.spl p.?
+/. 3 c.70C>T r.(?) p.(Arg24*)
+/. 3 c.70C>T r.(?) p.(Arg24*)
+/. 3 c.70C>T r.(?) p.(Arg24*)
+/. 3 c.70C>T r.(?) p.(Arg24*)
+/. 3 c.70C>T r.(?) p.(Arg24*)
+/. 3 c.70C>T r.(?) p.(Arg24*)
+/. - c.85C>T r.(?) p.(Arg29*)
+/. 3 c.85C>T r.(?) p.(Arg29*)
+/. 3 c.85C>T r.(?) p.(Arg29*)
+/. 3 c.85C>T r.(?) p.(Arg29*)
+/. - c.85C>T r.(?) p.(Arg29Ter)
+/. 3 c.85C>T r.(?) p.(Arg29*)
+/. 3 c.85C>T r.(?) p.(Arg29*)
+/. 3 c.107del r.(?) p.(Pro36Leufs*8)
+/. 3 c.107del r.(?) p.(Pro36Leufs*8)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
+/. 3 c.109C>T r.(?) p.(Arg37*)
?/. 3 c.122A>G r.(?) p.(Glu41Gly)
+/. 3i c.136+1G>A r.spl p.?
+/. 3i c.136+1G>C r.spl p.?
-/. - c.136+9C>T r.(=) p.(=)
+/. 3i c.137-19_137-16del r.137_231del p.Asp46Glyfs*7
-?/. 3i c.137-11dup r.(=) p.(=)
+/. 3i c.137-11T>A r.137_231del p.Asp46Glyfs*7
+/. 3i c.137-11T>A r.137_231del p.Asp46Glyfs*7
+/. 3i c.137-11T>A r.spl? p.(=)
+/. 3i c.137-11T>A r.spl? p.(=)
+/. 3i c.137-7T>G r.137_231del p.Asp46Glyfs*7
+/. 3i c.137-4A>G r.spl? p.?
+/. 3i c.137-4A>G r.spl? p.?
+/. 3i c.137-4A>G r.spl? p.?
+/. 3i c.137-3T>A r.spl? p.?
+/. 3i c.137-3_137del r.spl? p.?
+/. 3i c.137-2A>T r.spl p.?
+/. 4 c.137-?_231+?del r.(?) p.(Asp46Glyfs*7)
+/. 4 c.139_141del r.(?) p.(Lys47del)
+/. 4 c.139_141del r.(?) p.(Lys47del)
+/. 4 c.139_141del r.(?) p.(Lys47del)
+/. 4 c.139_141del r.(?) p.(Lys47del)
+/. 4 c.141_144del r.(?) p.(Glu48Leufs*24)
+/. 4 c.141_144del r.(?) p.(Glu48Leufs*24)
+/. 4 c.141_144del r.(?) p.(Glu48Leufs*24)
+/. 4 c.141_144del r.(?) p.(Glu48Leufs*24)
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