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Known Diseases associated with this Protein: | USHER SYNDROME 1G (USH1G)
| USHER SYNDROME, TYPE IG
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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_060468 | Disease | p.ASP458VAL | Usher syndrome 1G (USH1G) | dbSNP | rs111033466 | Polymorphism | p.GLU142LYS | N/A | Swiss-Prot | VAR_023739 | Disease | p.LEU48PRO | Usher syndrome 1G (USH1G) | dbSNP | rs111033465 | Polymorphism | p.LYS130GLU | N/A | OMIM | 607696.0001 | Disease | p.LEU48PRO | USHER SYNDROME, TYPE IG | OMIM | 607696.0005 | Disease | p.TRP38TER | USHER SYNDROME, TYPE IG |
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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