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Known Diseases associated with this Protein: | SHORT RIB-POLYDACTYLY SYNDROME 2A (SRPS2A)
| SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_040903 | Polymorphism | p.ALA294PRO | N/A | Swiss-Prot | VAR_046486 | Polymorphism | p.ALA598THR | N/A | Swiss-Prot | VAR_040905 | Polymorphism | p.ALA463VAL | N/A | Swiss-Prot | VAR_040904 | Polymorphism | p.ARG355GLY | N/A | Swiss-Prot | VAR_061743 | Polymorphism | p.ASN717LYS | N/A | Swiss-Prot | VAR_046489 | Polymorphism | p.ASP1180ASN | N/A | Swiss-Prot | VAR_046488 | Polymorphism | p.GLN883GLU | N/A | Swiss-Prot | VAR_051651 | Polymorphism | p.GLU724GLY | N/A | Swiss-Prot | VAR_040901 | Polymorphism | p.GLU25LYS | N/A | Swiss-Prot | VAR_069617 | Disease | p.GLY145ARG | Short rib-polydactyly syndrome 2A (SRPS2A) | Swiss-Prot | VAR_040900 | Polymorphism | p.ILE10PHE | N/A | Swiss-Prot | VAR_069618 | Disease | p.LEU253SER | Short rib-polydactyly syndrome 2A (SRPS2A) | Swiss-Prot | VAR_040902 | Polymorphism | p.LEU76VAL | N/A | Swiss-Prot | VAR_040906 | Polymorphism | p.LYS745ASN | N/A | OMIM | 604588.0001 | Disease | p.ARG127TER | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA | OMIM | 604588.0004 | Disease | p.GLY145ARG | SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA |
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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