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Known Diseases associated with this Protein: |  ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
| MYASTHENIC SYNDROME, CONGENITAL, ENGEL TYPE (CMSE)
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|  | 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. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_010135 | Disease | p.ARG410GLN | Myasthenic syndrome, congenital, Engel type (CMSE) | | Swiss-Prot | VAR_010134 | Disease | p.ASP342GLU | Myasthenic syndrome, congenital, Engel type (CMSE) | | Swiss-Prot | VAR_010137 | Disease | p.CYS444TYR | Myasthenic syndrome, congenital, Engel type (CMSE) | | Swiss-Prot | VAR_010133 | Disease | p.PRO59GLN | Myasthenic syndrome, congenital, Engel type (CMSE) | | dbSNP | rs6782980 | Polymorphism | p.SER312GLY | N/A | | Swiss-Prot | VAR_010136 | Disease | p.TYR430SER | Myasthenic syndrome, congenital, Engel type (CMSE) | | OMIM | 603033.0004 | Disease | p.ARG282TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0008 | Disease | p.ARG315TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0002 | Disease | p.GLU214TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0010 | Disease | p.GLY240TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0003 | Disease | p.SER169TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0007 | Disease | p.TYR431SER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY |
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 |
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116241309
COLQ_HUMAN RecName: Full=Acetylcholinesterase collagenic tail peptide; AltName: Full=AChE Q subunit; AltName: Full=Acetylcholinesterase-associated collagen; Flags: Precursor
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