Known Diseases associated with this Protein: |  3MC SYNDROME 2
| 3MC SYNDROME 2 (3MC2)
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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_065902 | Disease | p.GLY204SER | 3MC syndrome 2 (3MC2) | | dbSNP | rs7567833 | Polymorphism | p.HIS219ARG | N/A | | Swiss-Prot | VAR_065901 | Disease | p.SER169PRO | 3MC syndrome 2 (3MC2) | | OMIM | 612502.0003 | Disease | p.GLY190SER | 3MC SYNDROME 2 | | OMIM | 612502.0001 | Disease | p.SER155PRO | 3MC SYNDROME 2 |
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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COL11_HUMAN RecName: Full=Collectin-11; AltName: Full=Collectin kidney protein 1; Short=CL-K1; Flags: Precursor
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