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Known Diseases associated with this Protein: | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D)
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO
| PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA
| PHOSPHOGLYCERATE KINASE 1, PGK II
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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_006080 | Disease | p.ARG206PRO | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006083 | Polymorphism | p.ASP268ASN | N/A | Swiss-Prot | VAR_006085 | Disease | p.ASP315ASN | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006078 | Disease | p.ASP164VAL | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006084 | Disease | p.ASP285VAL | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006086 | Disease | p.CYS316ARG | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006081 | Disease | p.GLU252ALA | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006077 | Disease | p.GLY158VAL | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006076 | Disease | p.LEU88PRO | Phosphoglycerate kinase 1 deficiency (PGK1D) | Swiss-Prot | VAR_006087 | Polymorphism | p.THR352ASN | N/A | Swiss-Prot | VAR_006082 | Disease | p.VAL266MET | Phosphoglycerate kinase 1 deficiency (PGK1D) | OMIM | 311800.0002 | Disease | p.ARG206PRO | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UPPSALA | OMIM | 311800.0001 | Disease | p.ASP268ASN | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUNCHEN | OMIM | 311800.0013 | Disease | p.ASP164VAL | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMIENS | OMIM | 311800.0010 | Disease | p.ASP285VAL | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HERLEV | OMIM | 311800.0007 | Disease | p.CYS315ARG | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MICHIGAN | OMIM | 311800.0006 | Disease | p.GLY157VAL | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SHIZUOKA | OMIM | 311800.0011 | Disease | p.ILE46ASN | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, BARCELONA | OMIM | 311800.0009 | Disease | p.ILE252THR | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HAMAMATSU | OMIM | 311800.0005 | Disease | p.LEU88PRO | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MATSUE | OMIM | 311800.0012 | Disease | p.SER319ASN | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MURCIA | OMIM | 311800.0004 | Disease | p.THR352ASN | PHOSPHOGLYCERATE KINASE 1, PGK II | OMIM | 311800.0015 | Disease | p.THR378PRO | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AFULA | OMIM | 311800.0003 | Disease | p.VAL266MET | PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TOKYO |
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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