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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_034806 | Disease | p.ALA111GLY | Spinal muscular atrophy 2 (SMA2) | | Swiss-Prot | VAR_005615 | Disease | p.ALA2GLY | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_034803 | Disease | p.ASP30ASN | Spinal muscular atrophy 2 (SMA2) | | Swiss-Prot | VAR_034804 | Disease | p.ASP44VAL | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_034808 | Disease | p.GLN136GLU | Spinal muscular atrophy 1 (SMA1) | | Swiss-Prot | VAR_034805 | Disease | p.GLY95ARG | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_007990 | Disease | p.GLY279CYS | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_005619 | Disease | p.GLY275SER | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_005620 | Disease | p.GLY279VAL | Spinal muscular atrophy 1 (SMA1) | | Swiss-Prot | VAR_034807 | Disease | p.ILE116PHE | Spinal muscular atrophy 1 (SMA1) | | Swiss-Prot | VAR_010051 | Disease | p.PRO245LEU | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_034809 | Disease | p.SER262GLY | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_005616 | Disease | p.SER262ILE | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_005618 | Disease | p.THR274ILE | Spinal muscular atrophy 3 (SMA3) | | Swiss-Prot | VAR_005617 | Disease | p.TYR272CYS | Spinal muscular atrophy 1 (SMA1) | | OMIM | 600354.0015 | Disease | p.ALA111GLY | SPINAL MUSCULAR ATROPHY, TYPE I||SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED | | OMIM | 600354.0006 | Disease | p.ALA2GLY | SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED | | OMIM | 600354.0012 | Disease | p.ASP30ASN | SPINAL MUSCULAR ATROPHY, TYPE II | | OMIM | 600354.0013 | Disease | p.ASP44VAL | SPINAL MUSCULAR ATROPHY, TYPE III | | OMIM | 600354.0018 | Disease | p.GLN136GLU | SPINAL MUSCULAR ATROPHY, TYPE I | | OMIM | 600354.0014 | Disease | p.GLY95ARG | SPINAL MUSCULAR ATROPHY, TYPE III | | OMIM | 600354.0005 | Disease | p.GLY279VAL | SPINAL MUSCULAR ATROPHY, TYPE I | | OMIM | 600354.0017 | Disease | p.ILE116PHE | SPINAL MUSCULAR ATROPHY, TYPE I | | OMIM | 600354.0016 | Disease | p.SER262GLY | SPINAL MUSCULAR ATROPHY, TYPE III | | OMIM | 600354.0003 | Disease | p.SER262ILE | SPINAL MUSCULAR ATROPHY, TYPE III | | OMIM | 600354.0002 | Disease | p.THR274ILE | SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED | | OMIM | 600354.0010 | Disease | p.TRP102TER | SPINAL MUSCULAR ATROPHY, TYPE II||SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED | | OMIM | 600354.0019 | Disease | p.TYR130CYS | SPINAL MUSCULAR ATROPHY, TYPE III | | OMIM | 600354.0004 | Disease | p.TYR272CYS | SPINAL MUSCULAR ATROPHY, TYPE I | | OMIM | 600354.0020 | Disease | p.TYR130HIS | SPINAL MUSCULAR ATROPHY, TYPE III | | OMIM | 601627.0001 | Disease | p.GLY287ARG | SPINAL MUSCULAR ATROPHY, MODIFIER OF |
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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2498924
SMN_HUMAN RecName: Full=Survival motor neuron protein; AltName: Full=Component of gems 1; AltName: Full=Gemin-1
31
0
16
0
15
