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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 606157.0011 | Disease | p.ARG80TER | HARP SYNDROME | | OMIM | 606157.0002 | Disease | p.GLY120ARG | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED | | OMIM | 606157.0012 | Disease | p.MET36THR | HARP SYNDROME | | OMIM | 606157.0006 | Disease | p.SER70ASN | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 | | OMIM | 606157.0010 | Disease | p.THR127MET | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED |
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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24430167
pantothenate kinase 2, mitochondrial isoform 2 [Homo sapiens]
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