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Known Diseases associated with this Protein: | CATARACT 9, AUTOSOMAL RECESSIVE
| CATARACT 9, MULTIPLE TYPES (CTRCT9)
| CATARACT 9, MULTIPLE TYPES, WITH MICROCORNEA
| CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
| CATARACT 9, NUCLEAR
| CATARACT 9, NUCLEAR LAMELLAR
| CATARACT 9, NUCLEAR, WITH MICROCORNEA
| CATARACT 9, TOTAL
| CATARACT 9, TOTAL, WITH MICROCORNEA, AUTOSOMAL RECESSIVE
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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_003819 | Disease | p.ARG116CYS | Cataract 9, multiple types (CTRCT9) | Swiss-Prot | VAR_070032 | Disease | p.ARG12CYS | Cataract 9, multiple types (CTRCT9) | Swiss-Prot | VAR_038375 | Disease | p.ARG49CYS | Cataract 9, multiple types (CTRCT9) | Swiss-Prot | VAR_046893 | Disease | p.ARG116HIS | Cataract 9, multiple types (CTRCT9) | Swiss-Prot | VAR_046892 | Disease | p.ARG21LEU | Cataract 9, multiple types (CTRCT9) | Swiss-Prot | VAR_036564 | Polymorphism | p.ASP105HIS | N/A | OMIM | 123580.0001 | Disease | p.ARG116CYS | CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | OMIM | 123580.0008 | Disease | p.ARG12CYS | CATARACT 9, MULTIPLE TYPES, WITH MICROCORNEA | OMIM | 123580.0003 | Disease | p.ARG49CYS | CATARACT 9, NUCLEAR | OMIM | 123580.0006 | Disease | p.ARG54CYS | CATARACT 9, TOTAL, WITH MICROCORNEA, AUTOSOMAL RECESSIVE | OMIM | 123580.0010 | Disease | p.ARG21GLN | CATARACT 9, NUCLEAR LAMELLAR | OMIM | 123580.0004 123580.0007 | Disease | p.ARG116HIS | CATARACT 9, NUCLEAR, WITH MICROCORNEA | OMIM | 123580.0009 | Disease | p.ARG21TRP | CATARACT 9, MULTIPLE TYPES, WITH MICROCORNEA | OMIM | 123580.0005 | Disease | p.GLY98ARG | CATARACT 9, TOTAL | OMIM | 123580.0002 | Disease | p.TRP9TER | CATARACT 9, AUTOSOMAL RECESSIVE |
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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