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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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| Swiss-Prot | VAR_022377 | Disease | p.ALA212PRO | Congenital generalized lipodystrophy 2 (CGL2) | | Swiss-Prot | VAR_022375 | Disease | p.ASN88SER | Spastic paraplegia 17, autosomal dominant (SPG17) | | Swiss-Prot | VAR_022376 | Disease | p.SER90LEU | Spastic paraplegia 17, autosomal dominant (SPG17) | | OMIM | 606158.0009 | Disease | p.ALA148PRO | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0015 | Disease | p.ARG211TER | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0007 | Disease | p.ARG74TER | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0013 | Disease | p.ASN24SER | SILVER SPASTIC PARAPLEGIA SYNDROME||SPINAL MUSCULAR ATROPHY, DISTAL, TYPE VA, INCLUDED | | OMIM | 606158.0016 | Disease | p.GLU125TER | LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 | | OMIM | 606158.0014 | Disease | p.SER26LEU | 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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269849705
BSCL2_HUMAN RecName: Full=Seipin; AltName: Full=Bernardinelli-Seip congenital lipodystrophy type 2 protein
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