Known Diseases associated with this Protein: |  VARIANT OF UNKNOWN SIGNIFICANCE
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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_035048 | Polymorphism | p.ALA138VAL | N/A | | dbSNP | rs41291734 | Polymorphism | p.ARG75GLN | N/A | | Swiss-Prot | VAR_057782 | Polymorphism | p.GLU334LYS | N/A | | dbSNP | rs72934809 | Polymorphism | p.VAL1124ILE | N/A | | OMIM | 607082.0001 | Disease | p.LEU1040PRO | VARIANT OF UNKNOWN SIGNIFICANCE |
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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387912827
CA2D2_HUMAN RecName: Full=Voltage-dependent calcium channel subunit alpha-2/delta-2; AltName: Full=Voltage-gated calcium channel subunit alpha-2/delta-2; Contains: RecName: Full=Voltage-dependent calcium channel subunit alpha-2-2; Contains: RecName: Full=Voltage-dependent calcium channel subunit delta-2; Flags: Precursor
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