|
|
|---|
 |
|
Known Diseases associated with this Protein: |  ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
|
|  | 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:
| |
|---|
Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs6782980 | Polymorphism | p.SER302GLY | N/A | | OMIM | 603033.0004 | Disease | p.ARG272TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0008 | Disease | p.ARG305TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0002 | Disease | p.GLU204TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0010 | Disease | p.GLY230TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0003 | Disease | p.SER159TER | ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY | | OMIM | 603033.0007 | Disease | p.TYR421SER | 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 |
|
18105018
acetylcholinesterase collagenic tail peptide isoform II precursor [Homo sapiens]
6
1
6
1
0
