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Known Diseases associated with this Protein: | RETINITIS PIGMENTOSA 13
| RETINITIS PIGMENTOSA 13 (RP13)
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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_022630 | Disease | p.ARG2310GLY | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022623 | Polymorphism | p.ARG227HIS | N/A | Swiss-Prot | VAR_022631 | Disease | p.ARG2310LYS | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022625 | Polymorphism | p.ASN1293HIS | N/A | Swiss-Prot | VAR_022629 | Disease | p.HIS2309ARG | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022628 | Disease | p.HIS2309PRO | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022622 | Polymorphism | p.LYS68GLU | N/A | Swiss-Prot | VAR_022627 | Disease | p.PHE2304LEU | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022632 | Disease | p.PHE2314LEU | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022624 | Polymorphism | p.PRO874LEU | N/A | Swiss-Prot | VAR_022626 | Disease | p.PRO2301THR | Retinitis pigmentosa 13 (RP13) | Swiss-Prot | VAR_022633 | Disease | p.TYR2334ASN | Retinitis pigmentosa 13 (RP13) | OMIM | 607300.0003 | Disease | p.ARG2310LYS | RETINITIS PIGMENTOSA 13 | OMIM | 607300.0007 | Disease | p.ARG2310SER | RETINITIS PIGMENTOSA 13 | OMIM | 607300.0001 | Disease | p.HIS2309ARG | RETINITIS PIGMENTOSA 13 | OMIM | 607300.0002 | Disease | p.HIS2309PRO | RETINITIS PIGMENTOSA 13 | OMIM | 607300.0005 | Disease | p.PHE2304LEU | RETINITIS PIGMENTOSA 13 | OMIM | 607300.0004 | Disease | p.PRO2301THR | RETINITIS PIGMENTOSA 13 | OMIM | 607300.0006 | Disease | p.SER2118PHE | RETINITIS PIGMENTOSA 13 |
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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