|  | 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_014711 | Polymorphism | p.ASN73SER | N/A | | OMIM | 164017.0003 | Disease | p.ASN319SER | AMYOTROPHIC LATERAL SCLEROSIS 20 | | OMIM | 164017.0002 | Disease | p.ASP314ASN | AMYOTROPHIC LATERAL SCLEROSIS 20 | | OMIM | 164017.0001 | Disease | p.ASP314VAL | INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL||DEMENTIA 3 (1 family) |
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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288558857
ROA1_HUMAN RecName: Full=Heterogeneous nuclear ribonucleoprotein A1; Short=hnRNP A1; AltName: Full=Helix-destabilizing protein; AltName: Full=Single-strand RNA-binding protein; AltName: Full=hnRNP core protein A1; Contains: RecName: Full=Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed
3
1
3
0
1
