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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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| Swiss-Prot | VAR_032844 | Disease | p.ALA361VAL | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_032843 | Disease | p.ARG280CYS | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058743 | Disease | p.ARG204GLN | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058747 | Disease | p.ARG280HIS | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058748 | Disease | p.ARG280LEU | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_032842 | Disease | p.ASN256SER | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058744 | Disease | p.GLU251LYS | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_046744 | Disease | p.LYS253ASN | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058746 | Disease | p.LYS257ASN | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058742 | Disease | p.MET198THR | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_066616 | Disease | p.SER203CYS | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_033108 | Disease | p.TYR276CYS | Spastic paraplegia 10, autosomal dominant (SPG10) | | Swiss-Prot | VAR_058741 | Disease | p.TYR63CYS | Spastic paraplegia 10, autosomal dominant (SPG10) | | OMIM | 602821.0004 | Disease | p.ALA361VAL | SPASTIC PARAPLEGIA 10 | | OMIM | 602821.0002 | Disease | p.ARG280CYS | SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | | OMIM | 602821.0006 | Disease | p.ARG204GLN | SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY | | OMIM | 602821.0007 | Disease | p.ARG280HIS | SPASTIC PARAPLEGIA 10 | | OMIM | 602821.0001 | Disease | p.ASN256SER | SPASTIC PARAPLEGIA 10 | | OMIM | 602821.0005 | Disease | p.GLU251LYS | SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | | OMIM | 602821.0008 | Disease | p.GLU755LYS | SPASTIC PARAPLEGIA 10 | | OMIM | 602821.0009 | Disease | p.GLY235GLU | SPASTIC PARAPLEGIA 10 WITH PERIPHERAL NEUROPATHY | | OMIM | 602821.0003 | Disease | p.TYR276CYS | SPASTIC PARAPLEGIA 10 |
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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143811412
KIF5A_HUMAN RecName: Full=Kinesin heavy chain isoform 5A; AltName: Full=Kinesin heavy chain neuron-specific 1; AltName: Full=Neuronal kinesin heavy chain; Short=NKHC
22
0
9
0
13
