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Known Diseases associated with this Protein: | CORNEAL DYSTROPHY, SCHNYDER
| CORNEAL DYSTROPHY, SCHNYDER TYPE (SCCD)
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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_064337 | Disease | p.ALA97THR | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043717 | Disease | p.ARG119GLY | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043714 | Disease | p.ASN102SER | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043723 | Disease | p.ASN232SER | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_064339 | Disease | p.ASP112ASN | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_064343 | Disease | p.ASP240ASN | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043724 | Disease | p.ASP236GLU | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043715 | Disease | p.ASP112GLY | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043716 | Disease | p.ASP118GLY | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043721 | Disease | p.GLY177ARG | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043722 | Disease | p.GLY186ARG | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_069267 | Disease | p.GLY177GLU | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_064338 | Disease | p.GLY98SER | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_064342 | Disease | p.LEU188HIS | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043718 | Disease | p.LEU121PHE | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043713 | Polymorphism | p.SER75PHE | N/A | Swiss-Prot | VAR_043719 | Disease | p.SER171PRO | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_043720 | Disease | p.THR175ILE | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_064340 | Disease | p.VAL122GLU | Corneal dystrophy, Schnyder type (SCCD) | Swiss-Prot | VAR_064341 | Disease | p.VAL122GLY | Corneal dystrophy, Schnyder type (SCCD) | OMIM | 611632.0003 | Disease | p.ARG119GLY | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0001 | Disease | p.ASN102SER | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0005 | Disease | p.ASN232SER | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0009 | Disease | p.ASP236GLU | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0006 | Disease | p.ASP112GLY | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0002 | Disease | p.GLY177ARG | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0008 | Disease | p.GLY186ARG | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0010 | Disease | p.GLY177GLU | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0007 | Disease | p.SER171PRO | CORNEAL DYSTROPHY, SCHNYDER | OMIM | 611632.0004 | Disease | p.THR175ILE | CORNEAL DYSTROPHY, SCHNYDER |
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
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