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Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (1 FAMILY)
| PARKINSONISM WITH SPASTICITY, X-LINKED (1 FAMILY)
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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_051314 | Polymorphism | p.ALA290PRO | N/A | | dbSNP | rs9014 | Polymorphism | p.PRO90ALA | N/A | | OMIM | 300556.0001 | Disease | p.ASP107ASP | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (1 family) | | OMIM | 300556.0002 | Disease | p.SER115SER | PARKINSONISM WITH SPASTICITY, X-LINKED (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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66774158
RENR_HUMAN RecName: Full=Renin receptor; AltName: Full=ATPase H(+)-transporting lysosomal accessory protein 2; AltName: Full=ATPase H(+)-transporting lysosomal-interacting protein 2; AltName: Full=ER-localized type I transmembrane adaptor; AltName: Full=Embryonic liver differentiation factor 10; AltName: Full=N14F; AltName: Full=Renin/prorenin receptor; AltName: Full=Vacuolar ATP synthase membrane sector-associated protein M8-9; Short=ATP6M8-9; Short=V-ATPase M8.9 subunit; Flags: Precursor
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