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Known Diseases associated with this Protein: |  STUEVE-WIEDEMANN SYNDROME (STWS)
| STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME
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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 | rs3729740 | Polymorphism | p.ASP578ASN | N/A | | dbSNP | rs3729734 | Polymorphism | p.HIS116TYR | N/A | | Swiss-Prot | VAR_021996 | Polymorphism | p.ILE633MET | N/A | | Swiss-Prot | VAR_036166 | Polymorphism | p.PHE1068LEU | N/A | | Swiss-Prot | VAR_038626 | Polymorphism | p.SER664LEU | N/A | | Swiss-Prot | VAR_025666 | Disease | p.SER279PRO | Stueve-Wiedemann syndrome (STWS) | | dbSNP | rs3110234 | Polymorphism | p.VAL785ILE | N/A | | OMIM | 151443.0002 | Disease | p.ARG597TER | STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME |
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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1170784
LIFR_HUMAN RecName: Full=Leukemia inhibitory factor receptor; Short=LIF receptor; Short=LIF-R; AltName: CD_antigen=CD118; Flags: Precursor
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