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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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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs34550074 | Polymorphism | p.ALA396THR | N/A | | Swiss-Prot | VAR_068643 | Polymorphism | p.ARG445CYS | N/A | | Swiss-Prot | VAR_068637 | Disease | p.ARG97HIS | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068642 | Disease | p.CYS420PHE | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068644 | Disease | p.GLN556HIS | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068638 | Disease | p.GLY181ALA | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_067598 | Disease | p.GLY222ARG | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068641 | Disease | p.GLY255ARG | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068639 | Disease | p.GLY181ASP | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_067599 | Disease | p.GLY255GLU | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068636 | Disease | p.ILE85PHE | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068352 | Disease | p.PHE557SER | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068640 | Disease | p.SER204LEU | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | Swiss-Prot | VAR_068645 | Disease | p.TRP565GLY | Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 (PHOAR2) | | OMIM | 601460.0007 | Disease | p.ARG252TER | VARIANT OF UNKNOWN SIGNIFICANCE | | OMIM | 601460.0008 | Disease | p.CYS420PHE | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 | | OMIM | 601460.0004 | Disease | p.GLY222ARG | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 | | OMIM | 601460.0002 | Disease | p.GLY255GLU | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 | | OMIM | 601460.0010 | Disease | p.GLY104TER | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 | | OMIM | 601460.0009 | Disease | p.ILE85PHE | HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 |
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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218511799
SO2A1_HUMAN RecName: Full=Solute carrier organic anion transporter family member 2A1; AltName: Full=Prostaglandin transporter; Short=PGT; AltName: Full=Solute carrier family 21 member 2
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