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Known Diseases associated with this Protein: | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, 6 (HMN6)
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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_055225 | Polymorphism | p.ALA75THR | N/A | Swiss-Prot | VAR_058506 | Disease | p.ARG603CYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022338 | Disease | p.ARG637CYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022337 | Disease | p.ARG603HIS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_058505 | Disease | p.ARG581SER | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_021899 | Polymorphism | p.ARG694TRP | N/A | Swiss-Prot | VAR_022335 | Disease | p.ASN583ILE | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022331 | Disease | p.ASP565ASN | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022340 | Disease | p.ASP974GLU | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022324 | Disease | p.CYS241ARG | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_058498 | Disease | p.GLN196ARG | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022325 | Disease | p.GLU334LYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022328 | Disease | p.GLU382LYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022330 | Disease | p.GLU514LYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_021900 | Polymorphism | p.GLU928LYS | N/A | Swiss-Prot | VAR_022336 | Disease | p.GLY586CYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022322 | Disease | p.HIS213ARG | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_058502 | Disease | p.HIS445PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | dbSNP | rs10896380 | Polymorphism | p.ILE275VAL | N/A | Swiss-Prot | VAR_058497 | Disease | p.LEU17PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022321 | Disease | p.LEU192PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_058500 | Disease | p.LEU251PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022326 | Disease | p.LEU361PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022327 | Disease | p.LEU364PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022329 | Disease | p.LEU426PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_058503 | Disease | p.LEU472PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022333 | Disease | p.LEU577PRO | Neuronopathy, distal hereditary motor, 6 (HMN6) | dbSNP | rs560096 | Polymorphism | p.LEU201SER | N/A | Swiss-Prot | VAR_055226 | Polymorphism | p.PRO557ALA | N/A | Swiss-Prot | VAR_058499 | Disease | p.PRO216LEU | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022323 | Disease | p.THR221ALA | Neuronopathy, distal hereditary motor, 6 (HMN6) | dbSNP | rs622082 | Polymorphism | p.THR671ALA | N/A | Swiss-Prot | VAR_058504 | Disease | p.THR493ILE | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022339 | Disease | p.THR879LYS | Neuronopathy, distal hereditary motor, 6 (HMN6) | dbSNP | rs17612126 | Polymorphism | p.THR879LYS | N/A | Swiss-Prot | VAR_058501 | Disease | p.TRP386ARG | Neuronopathy, distal hereditary motor, 6 (HMN6) | Swiss-Prot | VAR_022334 | Disease | p.VAL580ILE | Neuronopathy, distal hereditary motor, 6 (HMN6) | OMIM | 600502.0004 | Disease | p.GLN41TER | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1 | OMIM | 600502.0001 | Disease | p.GLU514LYS | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1 | OMIM | 600502.0002 | Disease | p.HIS213ARG | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1 | OMIM | 600502.0006 | Disease | p.LEU236TER | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1 | OMIM | 600502.0008 | Disease | p.PHE369LEU | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1 | OMIM | 600502.0003 | Disease | p.VAL580ILE | DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1 |
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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