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Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
| SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (SPG54)
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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_069574 | Disease | p.ASP660HIS | Spastic paraplegia 54, autosomal recessive (SPG54) | | dbSNP | rs2306899 | Polymorphism | p.THR186MET | N/A | | OMIM | 615003.0006 | Disease | p.ARG287TER | SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | | OMIM | 615003.0005 | Disease | p.ARG516TER | SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | | OMIM | 615003.0004 | Disease | p.ASP660HIS | SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE |
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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160380694
DDHD2_HUMAN RecName: Full=Phospholipase DDHD2; AltName: Full=DDHD domain-containing protein 2; AltName: Full=KIAA0725p; AltName: Full=SAM, WWE and DDHD domain-containing protein 1
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