Results for the protein: Q13496

Results for the Protein: Q13496

2851537

4534

MTM1

NCBI, UniProt

MTM1_HUMAN RecName: Full=Myotubularin

Known Diseases associated with this Protein:
MYOPATHY, CENTRONUCLEAR, X-LINKED (CNMX)
MYOTUBULAR MYOPATHY, X-LINKED

63

0

6

0

57

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: GRAM - smart00568 Myotub-related - pfam06602 PTPc_motif - smart00404 PTPc_DSPc - smart00012	Swiss-Prot Protein: Q13496 Identical to: NP_000243 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Myotub-related	pfam06602	4e-72	192	309
PTPc_DSPc	smart00012	4.2e-34	323	471
PTPc_motif	smart00404	4.2e-34	323	471

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_018249	Disease	p.ALA389ASP	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018243	Disease	p.ALA279GLY	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006395	Disease	p.ARG241CYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006387	Disease	p.ARG69CYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006404	Disease	p.ARG421GLN	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006390	Disease	p.ARG184GLY	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018233	Disease	p.ARG184LEU	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006396	Disease	p.ARG241LEU	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018229	Disease	p.ARG69PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018230	Disease	p.ARG69SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018232	Disease	p.ASN180LYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006391	Disease	p.ASN189SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018256	Disease	p.ASN481TYR	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006406	Disease	p.ASP431ASN	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006407	Disease	p.ASP433ASN	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018254	Disease	p.CYS444TYR	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018231	Disease	p.GLU157LYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006402	Disease	p.GLU404LYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006401	Disease	p.GLY402ALA	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006399	Disease	p.GLY378ARG	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018251	Disease	p.GLY402ARG	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018248	Disease	p.GLY378GLU	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018252	Disease	p.GLY402VAL	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018242	Disease	p.HIS232ARG	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018247	Disease	p.HIS374ASP	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006408	Disease	p.HIS469PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_009219	Disease	p.ILE264SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_009218	Disease	p.ILE225THR	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006388	Disease	p.LEU70PHE	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018240	Disease	p.LEU228PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018250	Disease	p.LEU391PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006403	Disease	p.LEU406PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018255	Disease	p.LEU470PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006389	Disease	p.LEU87PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018237	Disease	p.LEU202SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_009222	Disease	p.LYS510ASN	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006397	Disease	p.MET317ARG	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006393	Disease	p.PRO205LEU	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_009217	Disease	p.PRO179SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018236	Disease	p.PRO199SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018238	Disease	p.PRO226THR	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006398	Disease	p.SER376ASN	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006394	Disease	p.SER229PRO	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_068846	Disease	p.SER387TYR	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018234	Disease	p.THR186ILE	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018235	Disease	p.THR197ILE	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006409	Disease	p.TRP499ARG	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018241	Disease	p.TRP230CYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018244	Disease	p.TRP346CYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018253	Disease	p.TRP411CYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018245	Disease	p.TRP346SER	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006392	Disease	p.TYR198ASN	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018228	Disease	p.TYR68ASP	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_006400	Disease	p.TYR397CYS	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018246	Disease	p.VAL364GLY	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018239	Disease	p.VAL227MET	Myopathy, centronuclear, X-linked (CNMX)
Swiss-Prot	VAR_018227	Disease	p.VAL49PHE	Myopathy, centronuclear, X-linked (CNMX)
OMIM	300415.0007	Disease	p.ARG241CYS	MYOTUBULAR MYOPATHY, X-LINKED
OMIM	300415.0003	Disease	p.ARG69CYS	MYOTUBULAR MYOPATHY, X-LINKED
OMIM	300415.0008	Disease	p.ARG224TER	MYOTUBULAR MYOPATHY, X-LINKED
OMIM	300415.0001	Disease	p.ASN207SER	MYOTUBULAR MYOPATHY, X-LINKED
OMIM	300415.0010	Disease	p.GLU157LYS	MYOTUBULAR MYOPATHY, X-LINKED
OMIM	300415.0002	Disease	p.TYR415CYS	MYOTUBULAR MYOPATHY, X-LINKED

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258