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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_007726 | Disease | p.ALA218VAL | Rhizomelic chondrodysplasia punctata 1 (RCDP1) | | Swiss-Prot | VAR_007725 | Polymorphism | p.GLY217ARG | N/A | | Swiss-Prot | VAR_016810 | Disease | p.THR14PRO | Peroxisome biogenesis disorder 9B (PBD9B) | | OMIM | 601757.0002 | Disease | p.ALA218VAL | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1||PEROXISOME BIOGENESIS DISORDER 9B, INCLUDED | | OMIM | 601757.0004 | Disease | p.ARG232TER | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | | OMIM | 601757.0003 | Disease | p.GLY217ARG | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | | OMIM | 601757.0001 | Disease | p.LEU292TER | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | | OMIM | 601757.0011 | Disease | p.THR14PRO | PEROXISOME BIOGENESIS DISORDER 9B | | OMIM | 601757.0007 | Disease | p.TYR115TER | PEROXISOME BIOGENESIS DISORDER 9B | | OMIM | 601757.0009 | Disease | p.TYR40TER | PEROXISOME BIOGENESIS DISORDER 9B |
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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3122596
PEX7_HUMAN RecName: Full=Peroxisomal targeting signal 2 receptor; Short=PTS2 receptor; AltName: Full=Peroxin-7
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