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Known Diseases associated with this Protein: | NEPHRONOPHTHISIS 15
| NEPHRONOPHTHISIS 15 (NPHP15)
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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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Default View:
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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_068504 | Disease | p.ARG93TRP | Nephronophthisis 15 (NPHP15) | dbSNP | rs573455 | Polymorphism | p.GLN1119ARG | N/A | Swiss-Prot | VAR_068503 | Disease | p.GLN11PRO | Nephronophthisis 15 (NPHP15) | dbSNP | rs490262 | Polymorphism | p.SER94ASN | N/A | dbSNP | rs61743854 | Polymorphism | p.THR1311SER | N/A | dbSNP | rs2305830 | Polymorphism | p.THR988SER | N/A | OMIM | 614848.0005 | Disease | p.ARG576TER | NEPHRONOPHTHISIS 15 | OMIM | 614848.0003 | Disease | p.ARG93TRP | NEPHRONOPHTHISIS 15 | OMIM | 614848.0002 | Disease | p.GLN11PRO | NEPHRONOPHTHISIS 15 | OMIM | 614848.0004 | Disease | p.GLN525TER | NEPHRONOPHTHISIS 15 | OMIM | 614848.0001 | Disease | p.TER1460TRP | NEPHRONOPHTHISIS 15 |
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
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