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Known Diseases associated with this Protein: | POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE (PPS-L)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_030160 | Polymorphism | p.ALA12GLY | N/A | Swiss-Prot | VAR_041053 | Polymorphism | p.ARG669HIS | N/A | Swiss-Prot | VAR_041052 | Polymorphism | p.ASN562TYR | N/A | Swiss-Prot | VAR_067332 | Disease | p.ILE121ASN | Popliteal pterygium syndrome, lethal type (PPS-L) | Swiss-Prot | VAR_041050 | Polymorphism | p.ILE462ASN | N/A | Swiss-Prot | VAR_067331 | Disease | p.ILE81ASN | Popliteal pterygium syndrome, lethal type (PPS-L) | Swiss-Prot | VAR_041054 | Polymorphism | p.PRO749SER | N/A | Swiss-Prot | VAR_030161 | Polymorphism | p.SER177ASN | N/A | Swiss-Prot | VAR_067333 | Disease | p.THR184ILE | Popliteal pterygium syndrome, lethal type (PPS-L) | Swiss-Prot | VAR_041051 | Polymorphism | p.VAL463MET | N/A |
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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