Known Diseases associated with this Protein: |  CHOREOACANTHOCYTOSIS
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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 | rs76077278 | Polymorphism | p.ARG1490LYS | 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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66346676
vacuolar protein sorting-associated protein 13A isoform D [Homo sapiens]
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