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Known Diseases associated with this Protein: | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
| ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (AAMR)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_070206 | Disease | p.ARG390PRO | Alacrima, achalasia, and mental retardation syndrome (AAMR) | Swiss-Prot | VAR_070207 | Disease | p.ASN401THR | Alacrima, achalasia, and mental retardation syndrome (AAMR) | Swiss-Prot | VAR_070203 | Disease | p.GLY182ASP | Alacrima, achalasia, and mental retardation syndrome (AAMR) | dbSNP | rs34218609 | Polymorphism | p.SER21PHE | N/A | Swiss-Prot | VAR_070204 | Disease | p.THR334MET | Alacrima, achalasia, and mental retardation syndrome (AAMR) | Swiss-Prot | VAR_070205 | Disease | p.THR334PRO | Alacrima, achalasia, and mental retardation syndrome (AAMR) | Swiss-Prot | VAR_042435 | Polymorphism | p.VAL156ALA | N/A | OMIM | 615495.0001 | Disease | p.ARG99TER | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | OMIM | 615495.0003 | Disease | p.GLY182ASP | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | OMIM | 615495.0002 | Disease | p.THR334PRO | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | OMIM | 615495.0005 | Disease | p.TRP214TER | ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME |
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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