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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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| dbSNP | rs34312154 | Polymorphism | p.ARG58CYS | N/A | | OMIM | 601592.0014 | Disease | p.ALA189VAL | FETAL AKINESIA DEFORMATION SEQUENCE | | OMIM | 601592.0009 | Disease | p.ARG164CYS | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 601592.0001 | Disease | p.ASN88LYS | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 601592.0011 | Disease | p.GLU162LYS | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 601592.0007 | Disease | p.LEU1PRO | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 601592.0002 | Disease | p.LEU14PRO | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 601592.0013 | Disease | p.PHE139SER | FETAL AKINESIA DEFORMATION SEQUENCE | | OMIM | 601592.0005 | Disease | p.TYR1TER | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 601592.0010 | Disease | p.VAL45MET | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||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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38045928
43 kDa receptor-associated protein of the synapse isoform 2 [Homo sapiens]
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