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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 | rs34800648 | Polymorphism | p.MET212ILE | N/A | OMIM | 300008.0010 | Disease | p.ARG280PRO | PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS | OMIM | 300008.0002 | Disease | p.ARG648TER | DENT DISEASE 1 | OMIM | 300008.0005 | Disease | p.ARG704TER | NEPHROLITHIASIS, X-LINKED RECESSIVE | OMIM | 300008.0006 | Disease | p.GLY506GLU | NEPHROLITHIASIS, X-LINKED RECESSIVE | OMIM | 300008.0013 | Disease | p.GLY260VAL | DENT DISEASE 1 | OMIM | 300008.0011 | Disease | p.GLY57VAL | NEPHROLITHIASIS, X-LINKED RECESSIVE | OMIM | 300008.0003 | Disease | p.LEU200ARG | DENT DISEASE 1 | OMIM | 300008.0007 | Disease | p.SER244LEU | HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE | OMIM | 300008.0004 | Disease | p.SER520PRO | DENT DISEASE 1 | OMIM | 300008.0001 | Disease | p.TRP279TER | DENT DISEASE 1||PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS,||INCLUDED | OMIM | 300008.0008 | Disease | p.TRP343TER | PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS |
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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