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Known Diseases associated with this Protein: | CHOREOACANTHOCYTOSIS
| CHOREOACANTHOCYTOSIS (CHAC)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_058116 | Disease | p.ALA1095PRO | Choreoacanthocytosis (CHAC) | Swiss-Prot | VAR_036324 | Polymorphism | p.ARG161HIS | N/A | dbSNP | rs76077278 | Polymorphism | p.ARG1490LYS | N/A | Swiss-Prot | VAR_038420 | Disease | p.ILE90LYS | Choreoacanthocytosis (CHAC) | Swiss-Prot | VAR_058121 | Polymorphism | p.ILE2486THR | N/A | Swiss-Prot | VAR_058114 | Polymorphism | p.PHE565LEU | N/A | Swiss-Prot | VAR_058122 | Polymorphism | p.PRO3172LEU | N/A | Swiss-Prot | VAR_012803 | Disease | p.SER1452PRO | Choreoacanthocytosis (CHAC) | Swiss-Prot | VAR_058120 | Disease | p.TRP2460ARG | Choreoacanthocytosis (CHAC) | Swiss-Prot | VAR_058118 | Polymorphism | p.TYR1587CYS | N/A | Swiss-Prot | VAR_038421 | Disease | p.TYR2721CYS | Choreoacanthocytosis (CHAC) | Swiss-Prot | VAR_058115 | Polymorphism | p.VAL898ALA | N/A | Swiss-Prot | VAR_058119 | Polymorphism | p.VAL1973ILE | N/A | OMIM | 605978.0004 | Disease | p.ARG208TER | CHOREOACANTHOCYTOSIS | OMIM | 605978.0001 | Disease | p.ILE90LYS | CHOREOACANTHOCYTOSIS | OMIM | 605978.0010 | Disease | p.TRP435TER | CHOREOACANTHOCYTOSIS |
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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