Transcript #00012216

Transcript name myotubularin related protein 1
Gene name MTMR1 (myotubularin related protein 1)
Chromosome X
Transcript - NCBI ID NM_003828.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003819.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.147-28G>A r.(=) p.(=)
?/? c.147-11_147-10insT r.(=) p.(=)
?/? c.253-42del r.(=) p.(=)
?/? c.291G>C r.(?) p.(Glu97Asp)
?/? c.328+14G>A r.(=) p.(=)
?/? c.329-36A>G r.(=) p.(=)
?/? c.329-23C>A r.(=) p.(=)
?/? c.332A>G r.(?) p.(Lys111Arg)
?/? c.342G>A r.(?) p.(Met114Ile)
?/? c.417C>T r.(=) p.(=)
?/? c.424-25C>T r.(=) p.(=)
?/? c.436A>G r.(?) p.(Ile146Val)
?/? c.531+49A>G r.(=) p.(=)
?/? c.532-23G>A r.(=) p.(=)
?/? c.532-17T>C r.(=) p.(=)
?/? c.627C>T r.(=) p.(=)
?/? c.633+9A>C r.(=) p.(=)
?/? c.633+32G>A r.(=) p.(=)
?/? c.670A>G r.(?) p.(Ile224Val)
?/? c.682A>C r.(?) p.(Lys228Gln)
?/? c.699A>G r.(=) p.(=)
?/? c.718-49T>C r.(=) p.(=)
?/? c.768G>A r.(=) p.(=)
?/? c.838G>T r.(?) p.(Ala280Ser)
?/? c.851C>T r.(?) p.(Ala284Val)
?/? c.867+42C>T r.(=) p.(=)
?/? c.868-23T>C r.(=) p.(=)
?/? c.947G>T r.(?) p.(Arg316Leu)
?/? c.1041C>A r.(=) p.(=)
?/? c.1056+48G>A r.(=) p.(=)
?/? c.1057-4G>A r.spl? p.?
?/? c.1123C>T r.(?) p.(His375Tyr)
?/? c.1141C>A r.(=) p.(=)
?/? c.1154G>T r.(?) p.(Arg385Leu)
?/? c.1194G>A r.(=) p.(=)
?/? c.1209T>G r.(?) p.(Asn403Lys)
?/? c.1221G>A r.(=) p.(=)
?/? c.1242+12C>T r.(=) p.(=)
?/? c.1242+22T>C r.(=) p.(=)
?/? c.1242+23A>G r.(=) p.(=)
?/? c.1242+47G>A r.(=) p.(=)
?/? c.1243-36A>G r.(=) p.(=)
?/? c.1269T>A r.(=) p.(=)
?/? c.1336G>T r.(?) p.(Ala446Ser)
?/? c.1360C>T r.(=) p.(=)
?/? c.1366T>C r.(=) p.(=)
?/? c.1450-46G>C r.(=) p.(=)
?/? c.1450-32G>A r.(=) p.(=)
?/? c.1542+47A>G r.(=) p.(=)
?/? c.1543-8C>T r.(=) p.(=)
?/? c.1631A>G r.(?) p.(Asn544Ser)
?/? c.1656+48C>T r.(=) p.(=)
?/? c.1656+282G>A r.(=) p.(=)
?/? c.1657-49_1657-47del r.(=) p.(=)
?/? c.1674G>A r.(=) p.(=)
?/? c.1723C>G r.(?) p.(Pro575Ala)
?/? c.1819C>T r.(?) p.(Arg607Trp)
?/? c.1834-36del r.(=) p.(=)
?/? c.1834-11G>A r.(=) p.(=)
?/? c.1855_1857del r.(?) p.(Lys619del)
?/? c.1870G>A r.(?) p.(Val624Ile)
?/? c.1902C>T r.(=) p.(=)
?/? c.1930G>A r.(?) p.(Val644Ile)
?/? c.1948C>T r.(?) p.(Arg650Trp)
?/? c.1953C>T r.(=) p.(=)
?/? c.1959G>A r.(=) p.(=)
?/? c.1981G>A r.(?) p.(Val661Ile)
?/? c.*5C>T r.(=) p.(=)
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