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Known Diseases associated with this Protein: |  46,XY SEX REVERSAL 8
| 46,XY SEX REVERSAL 8 (SRXY8)
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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_066635 | Disease | p.ASN300THR | 46,XY sex reversal 8 (SRXY8) | | Swiss-Prot | VAR_066634 | Disease | p.HIS222GLN | 46,XY sex reversal 8 (SRXY8) | | Swiss-Prot | VAR_066633 | Disease | p.HIS90GLN | 46,XY sex reversal 8 (SRXY8) | | Swiss-Prot | VAR_066632 | Disease | p.ILE79VAL | 46,XY sex reversal 8 (SRXY8) | | Swiss-Prot | VAR_014748 | Polymorphism | p.LEU172GLN | N/A | | dbSNP | rs2854482 | Polymorphism | p.PHE46TYR | N/A | | OMIM | 600450.0003 | Disease | p.ASN300THR | 46,XY SEX REVERSAL 8 | | OMIM | 600450.0004 | Disease | p.HIS222GLN | 46,XY SEX REVERSAL 8 | | OMIM | 600450.0002 | Disease | p.HIS90GLN | 46,XY SEX REVERSAL 8 | | OMIM | 600450.0001 | Disease | p.ILE79VAL | 46,XY SEX REVERSAL 8 |
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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20532374
AK1C2_HUMAN RecName: Full=Aldo-keto reductase family 1 member C2; AltName: Full=3-alpha-HSD3; AltName: Full=Chlordecone reductase homolog HAKRD; AltName: Full=Dihydrodiol dehydrogenase 2; Short=DD-2; Short=DD2; AltName: Full=Dihydrodiol dehydrogenase/bile acid-binding protein; Short=DD/BABP; AltName: Full=Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase; AltName: Full=Type III 3-alpha-hydroxysteroid dehydrogenase
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