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Known Diseases associated with this Protein: |  ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES
| ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES (FENIB)
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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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| dbSNP | rs33917740 | Polymorphism | p.PHE7LEU | N/A | | Swiss-Prot | VAR_008521 | Disease | p.SER52ARG | Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) | | Swiss-Prot | VAR_008520 | Disease | p.SER49PRO | Encephalopathy, familial, with neuroserpin inclusion bodies (FENIB) | | OMIM | 602445.0005 | Disease | p.GLY392ARG | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES | | OMIM | 602445.0004 | Disease | p.GLY392GLU | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES | | OMIM | 602445.0003 | Disease | p.HIS338ARG | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES | | OMIM | 602445.0002 | Disease | p.SER52ARG | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES | | OMIM | 602445.0001 | Disease | p.SER49PRO | ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES |
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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3183087
NEUS_HUMAN RecName: Full=Neuroserpin; AltName: Full=Peptidase inhibitor 12; Short=PI-12; AltName: Full=Serpin I1; Flags: Precursor
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