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Known Diseases associated with this Protein: |  NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
| NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (NMAN)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069212 | Disease | p.ARG37PRO | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) | | Swiss-Prot | VAR_069214 | Disease | p.CYS84ARG | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) | | Swiss-Prot | VAR_069216 | Disease | p.GLY93ASP | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) | | Swiss-Prot | VAR_069215 | Disease | p.GLY89VAL | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) | | Swiss-Prot | VAR_069213 | Disease | p.HIS51ARG | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) | | Swiss-Prot | VAR_069217 | Disease | p.HIS112ASN | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) | | OMIM | 601314.0001 | Disease | p.ARG37PRO | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | | OMIM | 601314.0002 | Disease | p.CYS84ARG | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | | OMIM | 601314.0006 | Disease | p.GLN62TER | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | | OMIM | 601314.0007 | Disease | p.GLY93ASP | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | | OMIM | 601314.0003 | Disease | p.GLY89VAL | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | | OMIM | 601314.0005 | Disease | p.HIS51ARG | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE | | OMIM | 601314.0004 | Disease | p.HIS112ASN | NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE |
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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1708543
HINT1_HUMAN RecName: Full=Histidine triad nucleotide-binding protein 1; AltName: Full=Adenosine 5'-monophosphoramidase; AltName: Full=Protein kinase C inhibitor 1; AltName: Full=Protein kinase C-interacting protein 1; Short=PKCI-1
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