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Known Diseases associated with this Protein: |  PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME
| PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME (PVHH)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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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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| dbSNP | rs35126362 | Polymorphism | p.ALA481THR | N/A | | Swiss-Prot | VAR_064412 | Disease | p.ALA326VAL | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064410 | Disease | p.ARG84HIS | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064414 | Disease | p.GLY412ARG | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064044 | Disease | p.LEU398VAL | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064043 | Disease | p.PRO280ARG | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064413 | Disease | p.THR352ARG | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064045 | Disease | p.THR430ARG | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | Swiss-Prot | VAR_064415 | Disease | p.THR430MET | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | | dbSNP | rs2287015 | Polymorphism | p.VAL16ALA | N/A | | OMIM | 610865.0006 | Disease | p.ALA326VAL | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | | OMIM | 610865.0003 | Disease | p.LEU398VAL | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | | OMIM | 610865.0005 | Disease | p.PRO280ARG | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | | OMIM | 610865.0004 | Disease | p.SER158TER | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | | OMIM | 610865.0001 | Disease | p.THR430ARG | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | | OMIM | 610865.0008 | Disease | p.TYR134TER | PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME |
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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46396034
FLVC2_HUMAN RecName: Full=Feline leukemia virus subgroup C receptor-related protein 2; AltName: Full=Calcium-chelate transporter; Short=CCT
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