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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 | rs63750612 | Polymorphism | p.ALA495THR | N/A | Swiss-Prot | VAR_019660 | Disease | p.ARG5HIS | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_019661 | Disease | p.ARG5LEU | Progressive supranuclear palsy 1 (PSNP1) | Swiss-Prot | VAR_056121 | Polymorphism | p.ARG370TRP | N/A | Swiss-Prot | VAR_010353 | Polymorphism | p.ARG723TRP | N/A | Swiss-Prot | VAR_019663 | Disease | p.ASN613HIS | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_010346 | Disease | p.ASN596LYS | Frontotemporal dementia (FTD) | dbSNP | rs62063786 | Polymorphism | p.ASP285ASN | N/A | dbSNP | rs63750072 | Polymorphism | p.GLN230ARG | N/A | Swiss-Prot | VAR_019666 | Disease | p.GLU659VAL | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_010352 | Disease | p.GLY706ARG | Pick disease of the brain (PIDB) | Swiss-Prot | VAR_010345 | Disease | p.GLY589VAL | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_037439 | Disease | p.GLY620VAL | Progressive supranuclear palsy 1 (PSNP1) | Swiss-Prot | VAR_019662 | Disease | p.LEU583VAL | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_019668 | Disease | p.LYS686ILE | Pick disease of the brain (PIDB) | Swiss-Prot | VAR_037440 | Disease | p.LYS634MET | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_010344 | Disease | p.LYS574THR | Pick disease of the brain (PIDB) | dbSNP | rs63750417 | Polymorphism | p.PRO202LEU | N/A | Swiss-Prot | VAR_010348 | Disease | p.PRO618LEU | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_010349 | Disease | p.PRO618SER | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_010350 | Disease | p.SER622ASN | Frontotemporal dementia (FTD) | Swiss-Prot | VAR_019667 | Polymorphism | p.SER669LEU | N/A | Swiss-Prot | VAR_019665 | Disease | p.SER637PHE | Pick disease of the brain (PIDB) | dbSNP | rs10445337 | Polymorphism | p.SER447PRO | N/A | Swiss-Prot | VAR_064623 | Polymorphism | p.THR30ALA | N/A | Swiss-Prot | VAR_064622 | Polymorphism | p.THR17MET | N/A | dbSNP | rs2258689 | Polymorphism | p.TYR441HIS | N/A | dbSNP | rs62063787 | Polymorphism | p.VAL289ALA | N/A | Swiss-Prot | VAR_064624 | Polymorphism | p.VAL617ILE | N/A | Swiss-Prot | VAR_010351 | Disease | p.VAL654MET | Frontotemporal dementia (FTD) |
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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