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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs115116507 | Polymorphism | p.ASP20GLU | N/A | | OMIM | 606158.0009 | Disease | p.ALA212PRO | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0007 | Disease | p.ARG138TER | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0015 | Disease | p.ARG275TER | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0013 | Disease | p.ASN88SER | SILVER SPASTIC PARAPLEGIA SYNDROME||SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA, INCLUDED | | OMIM | 606158.0016 | Disease | p.GLU189TER | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0014 | Disease | p.SER90LEU | SILVER SPASTIC PARAPLEGIA SYNDROME |
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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171906569
seipin isoform 1 [Homo sapiens]
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