Known Diseases associated with this Protein: |  RETINITIS PIGMENTOSA 60
| RETINITIS PIGMENTOSA 60 (RP60)
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_065768 | Disease | p.ARG729TRP | Retinitis pigmentosa 60 (RP60) | | Swiss-Prot | VAR_069766 | Polymorphism | p.ASN477SER | N/A | | OMIM | 613979.0001 | Disease | p.ARG729TRP | RETINITIS PIGMENTOSA 60 |
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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24212088
PRP6_HUMAN RecName: Full=Pre-mRNA-processing factor 6; AltName: Full=Androgen receptor N-terminal domain-transactivating protein 1; Short=ANT-1; AltName: Full=PRP6 homolog; AltName: Full=U5 snRNP-associated 102 kDa protein; Short=U5-102 kDa protein
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