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Known Diseases associated with this Protein: |  DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS 1 (DSAP1)
| RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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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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| dbSNP | rs1063936 | Polymorphism | p.ARG36SER | N/A | | dbSNP | rs2072579 | Polymorphism | p.ASP23GLU | N/A | | Swiss-Prot | VAR_038684 | Polymorphism | p.GLU621ASP | N/A | | Swiss-Prot | VAR_038683 | Disease | p.VAL591MET | Disseminated superficial actinic porokeratosis 1 (DSAP1) | | OMIM | 611684.0001 | Disease | p.VAL591MET | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
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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74762140
SART3_HUMAN RecName: Full=Squamous cell carcinoma antigen recognized by T-cells 3; Short=SART-3; Short=hSART-3; AltName: Full=Tat-interacting protein of 110 kDa; Short=Tip110
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