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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_003636 | Disease | p.ALA274THR | Acute hepatic porphyria (AHEPP) | | Swiss-Prot | VAR_003635 | Disease | p.ARG240TRP | Acute hepatic porphyria (AHEPP) | | Swiss-Prot | VAR_003634 | Disease | p.GLY133ARG | Acute hepatic porphyria (AHEPP) | | dbSNP | rs1800435 | Polymorphism | p.LYS59ASN | N/A | | Swiss-Prot | VAR_020973 | Polymorphism | p.PHE12LEU | N/A | | Swiss-Prot | VAR_020974 | Disease | p.VAL153MET | Acute hepatic porphyria (AHEPP) | | Swiss-Prot | VAR_003637 | Disease | p.VAL275MET | Acute hepatic porphyria (AHEPP) | | OMIM | 125270.0005 | Disease | p.ALA274THR | PORPHYRIA, ACUTE HEPATIC | | OMIM | 125270.0004 | Disease | p.ARG240TRP | PORPHYRIA, ACUTE HEPATIC | | OMIM | 125270.0001 | Disease | p.GLY133ARG | PORPHYRIA, ACUTE HEPATIC | | OMIM | 125270.0006 | Disease | p.PHE12LEU | PORPHYRIA, ACUTE HEPATIC, DIGENIC | | OMIM | 125270.0002 | Disease | p.VAL275MET | PORPHYRIA, ACUTE HEPATIC |
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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122833
HEM2_HUMAN RecName: Full=Delta-aminolevulinic acid dehydratase; Short=ALADH; AltName: Full=Porphobilinogen synthase
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