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Known Diseases associated with this Protein: | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE
| HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE (HMAG)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_050033 | Polymorphism | p.ARG52GLN | N/A | dbSNP | rs61736326 | Polymorphism | p.ARG1164HIS | N/A | Swiss-Prot | VAR_004326 | Polymorphism | p.ARG61LYS | N/A | dbSNP | rs61739582 | Polymorphism | p.ASN1222SER | N/A | Swiss-Prot | VAR_061338 | Polymorphism | p.ASP314ASN | N/A | dbSNP | rs1805087 | Polymorphism | p.ASP919GLY | N/A | Swiss-Prot | VAR_004327 | Polymorphism | p.CYS255TYR | N/A | Swiss-Prot | VAR_004330 | Disease | p.HIS920ASP | Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) | Swiss-Prot | VAR_004331 | Disease | p.PRO1173LEU | Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG) | OMIM | 156570.0011 | Disease | p.ALA410PRO | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | OMIM | 156570.0009 | Disease | p.ARG585TER | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | OMIM | 156570.0010 | Disease | p.GLU1204TER | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | OMIM | 156570.0003 | Disease | p.HIS920ASP | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE | OMIM | 156570.0001 | Disease | p.PRO1173LEU | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION 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.
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