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Known Diseases associated with this Protein: | NEPHROTIC SYNDROME 9 (NPHS9)
| NEPHROTIC SYNDROME, TYPE 9
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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ABC1 | pfam03109 | 7.4e-43 | 197 | 313 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs11538384 | Polymorphism | p.ARG78CYS | N/A | Swiss-Prot | VAR_070556 | Disease | p.ARG477GLN | Nephrotic syndrome 9 (NPHS9) | Swiss-Prot | VAR_070552 | Disease | p.ARG178TRP | Nephrotic syndrome 9 (NPHS9) | Swiss-Prot | VAR_070554 | Disease | p.ARG320TRP | Nephrotic syndrome 9 (NPHS9) | Swiss-Prot | VAR_070555 | Disease | p.ARG343TRP | Nephrotic syndrome 9 (NPHS9) | Swiss-Prot | VAR_070553 | Disease | p.ASP286GLY | Nephrotic syndrome 9 (NPHS9) | dbSNP | rs3865452 | Polymorphism | p.HIS174ARG | N/A | dbSNP | rs36012476 | Polymorphism | p.THR352ARG | N/A | Swiss-Prot | VAR_041421 | Polymorphism | p.THR318MET | N/A | Swiss-Prot | VAR_041423 | Polymorphism | p.THR462MET | N/A | OMIM | 615567.0001 | Disease | p.ARG178TRP | NEPHROTIC SYNDROME, TYPE 9 | OMIM | 615567.0004 | Disease | p.ARG320TRP | NEPHROTIC SYNDROME, TYPE 9 | OMIM | 615567.0005 | Disease | p.ARG343TRP | NEPHROTIC SYNDROME, TYPE 9 | OMIM | 615567.0002 | Disease | p.ASP286GLY | NEPHROTIC SYNDROME, TYPE 9 | OMIM | 615567.0003 | Disease | p.GLU483TER | NEPHROTIC SYNDROME, TYPE 9 |
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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