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Known Diseases associated with this Protein: |  REGULATOR TYPE RH-NULL HEMOLYTIC ANEMIA (RHN)
| RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE
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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_047999 | Polymorphism | p.ASN242ASP | N/A | | Swiss-Prot | VAR_015857 | Disease | p.GLY280ARG | Regulator type Rh-null hemolytic anemia (RHN) | | Swiss-Prot | VAR_015856 | Disease | p.GLY279GLU | Regulator type Rh-null hemolytic anemia (RHN) | | Swiss-Prot | VAR_015858 | Disease | p.GLY380VAL | Regulator type Rh-null hemolytic anemia (RHN) | | Swiss-Prot | VAR_006921 | Disease | p.SER79ASN | Regulator type Rh-null hemolytic anemia (RHN) | | dbSNP | rs16879498 | Polymorphism | p.VAL270ILE | N/A | | Swiss-Prot | VAR_015855 | Disease | p.VAL270ILE | Regulator type Rh-null hemolytic anemia (RHN) | | OMIM | 180297.0009 | Disease | p.GLY280ARG | RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE | | OMIM | 180297.0004 | Disease | p.GLY279GLU | RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE | | OMIM | 180297.0010 | Disease | p.GLY380VAL | RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE | | OMIM | 180297.0003 | Disease | p.SER79ASN | RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE | | OMIM | 180297.0009 | Disease | p.VAL270ILE | RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE |
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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218511807
RHAG_HUMAN RecName: Full=Ammonium transporter Rh type A; AltName: Full=Erythrocyte membrane glycoprotein Rh50; AltName: Full=Erythrocyte plasma membrane 50 kDa glycoprotein; Short=Rh50A; AltName: Full=Rhesus blood group family type A glycoprotein; Short=Rh family type A glycoprotein; Short=Rh type A glycoprotein; AltName: Full=Rhesus blood group-associated ammonia channel; AltName: Full=Rhesus blood group-associated glycoprotein; AltName: CD_antigen=CD241
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