Known Diseases associated with this Protein: |  NIGHT BLINDNESS, CONGENITAL STATIONARY, 2B (CSNB2B)
| NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B
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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_029375 | Disease | p.ARG124CYS | Night blindness, congenital stationary, 2B (CSNB2B) | | OMIM | 608965.0002 | Disease | p.ARG124CYS | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B |
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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20178284
CABP4_HUMAN RecName: Full=Calcium-binding protein 4; Short=CaBP4
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