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Known Diseases associated with this Protein: |  ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
| STARGARDT DISEASE 3
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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_017043 | Polymorphism | p.ILE267THR | N/A | | dbSNP | rs3812153 | Polymorphism | p.MET299VAL | N/A | | OMIM | 605512.0005 | Disease | p.ARG216TER | ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION | | OMIM | 605512.0004 | Disease | p.TYR270TER | STARGARDT DISEASE 3 |
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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20137966
ELOV4_HUMAN RecName: Full=Elongation of very long chain fatty acids protein 4; AltName: Full=3-keto acyl-CoA synthase ELOVL4; AltName: Full=ELOVL fatty acid elongase 4; Short=ELOVL FA elongase 4; AltName: Full=Very-long-chain 3-oxoacyl-CoA synthase 4
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