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Known Diseases associated with this Protein: |  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
| FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (FSGS1)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_010378 | Disease | p.LYS255GLU | Focal segmental glomerulosclerosis 1 (FSGS1) | | Swiss-Prot | VAR_010380 | Disease | p.SER262PRO | Focal segmental glomerulosclerosis 1 (FSGS1) | | Swiss-Prot | VAR_010379 | Disease | p.THR259ILE | Focal segmental glomerulosclerosis 1 (FSGS1) | | OMIM | 604638.0001 | Disease | p.LYS228GLU | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 | | OMIM | 604638.0003 | Disease | p.SER235PRO | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 | | OMIM | 604638.0002 | Disease | p.THR232ILE | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 |
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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13123943
ACTN4_HUMAN RecName: Full=Alpha-actinin-4; AltName: Full=F-actin cross-linking protein; AltName: Full=Non-muscle alpha-actinin 4
6
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3
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3
