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Known Diseases associated with this Protein: | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 (CSNBAD2)
| RETINITIS PIGMENTOSA 40 (RP40)
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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_009283 | Disease | p.ARG74CYS | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009292 | Disease | p.ARG552GLN | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_068361 | Disease | p.ARG100HIS | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_068362 | Disease | p.ASP776ASN | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_054869 | Polymorphism | p.GLU654ASP | N/A | Swiss-Prot | VAR_009284 | Polymorphism | p.GLU166LYS | N/A | Swiss-Prot | VAR_006051 | Disease | p.GLY576ASP | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009289 | Disease | p.HIS258ASN | Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) | Swiss-Prot | VAR_006050 | Disease | p.HIS557TYR | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009291 | Disease | p.ILE535ASN | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_006052 | Disease | p.LEU699ARG | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009293 | Disease | p.LEU854ARG | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009287 | Disease | p.LEU228HIS | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009288 | Polymorphism | p.LEU228ILE | N/A | Swiss-Prot | VAR_009290 | Disease | p.LEU527PRO | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_009285 | Polymorphism | p.TYR212HIS | N/A | Swiss-Prot | VAR_009286 | Disease | p.TYR219HIS | Retinitis pigmentosa 40 (RP40) | Swiss-Prot | VAR_054868 | Polymorphism | p.VAL320ILE | 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.
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