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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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dbSNP | rs3742207 | Polymorphism | p.GLN1334HIS | N/A | Swiss-Prot | VAR_030031 | Disease | p.GLY1236ARG | Porencephaly 1 (POREN1) | Swiss-Prot | VAR_030032 | Disease | p.GLY1423ARG | Porencephaly 1 (POREN1) | Swiss-Prot | VAR_064499 | Disease | p.GLY1580ARG | Porencephaly 1 (POREN1) | Swiss-Prot | VAR_064493 | Disease | p.GLY498ARG | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | Swiss-Prot | VAR_064494 | Disease | p.GLY510ARG | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | Swiss-Prot | VAR_044160 | Disease | p.GLY519ARG | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | Swiss-Prot | VAR_064497 | Disease | p.GLY755ARG | Brain small vessel disease with hemorrhage (BSVDH) | Swiss-Prot | VAR_064498 | Disease | p.GLY805ARG | Brain small vessel disease with hemorrhage (BSVDH) | Swiss-Prot | VAR_030030 | Disease | p.GLY1130ASP | Porencephaly 1 (POREN1) | Swiss-Prot | VAR_064496 | Disease | p.GLY720ASP | Brain small vessel disease with hemorrhage (BSVDH) | Swiss-Prot | VAR_044161 | Disease | p.GLY528GLU | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | Swiss-Prot | VAR_030028 | Disease | p.GLY562GLU | Brain small vessel disease with hemorrhage (BSVDH) | Swiss-Prot | VAR_064495 | Disease | p.GLY525LEU | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | Swiss-Prot | VAR_030029 | Disease | p.GLY749SER | Porencephaly 1 (POREN1) | Swiss-Prot | VAR_044159 | Disease | p.GLY498VAL | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) | Swiss-Prot | VAR_044158 | Polymorphism | p.PRO304LEU | N/A | Swiss-Prot | VAR_030511 | Polymorphism | p.THR555PRO | N/A | Swiss-Prot | VAR_030027 | Polymorphism | p.VAL7LEU | N/A | OMIM | 120130.0016 | Disease | p.ARG538GLY | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | OMIM | 120130.0001 | Disease | p.GLY1236ARG | PORENCEPHALY 1 | OMIM | 120130.0006 | Disease | p.GLY1423ARG | PORENCEPHALY 1 | OMIM | 120130.0011 | Disease | p.GLY1580ARG | PORENCEPHALY 1 | OMIM | 120130.0012 | Disease | p.GLY498ARG | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | OMIM | 120130.0013 | Disease | p.GLY510ARG | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | OMIM | 120130.0008 | Disease | p.GLY519ARG | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | OMIM | 120130.0005 | Disease | p.GLY1130ASP | PORENCEPHALY 1 | OMIM | 120130.0010 | Disease | p.GLY720ASP | BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY | OMIM | 120130.0009 | Disease | p.GLY528GLU | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | OMIM | 120130.0003 | Disease | p.GLY562GLU | BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | OMIM | 120130.0014 | Disease | p.GLY525LEU | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | OMIM | 120130.0002 | Disease | p.GLY749SER | PORENCEPHALY 1 | OMIM | 120130.0007 | Disease | p.GLY498VAL | ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | OMIM | 120130.0015 | Disease | p.PRO352LEU | HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO |
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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