|
|
|---|
 |
|
Known Diseases associated with this Protein: |  OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
| OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OPTB1)
|
|  | 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. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_020988 | Disease | p.ALA141PRO | Osteopetrosis, autosomal recessive 1 (OPTB1) | | Swiss-Prot | VAR_019570 | Disease | p.ARG444LEU | Osteopetrosis, autosomal recessive 1 (OPTB1) | | dbSNP | rs36027301 | Polymorphism | p.ARG56TRP | N/A | | Swiss-Prot | VAR_020990 | Disease | p.ASP517ASN | Osteopetrosis, autosomal recessive 1 (OPTB1) | | Swiss-Prot | VAR_019569 | Disease | p.GLY405ARG | Osteopetrosis, autosomal recessive 1 (OPTB1) | | Swiss-Prot | VAR_020991 | Disease | p.PRO775ARG | Osteopetrosis, autosomal recessive 1 (OPTB1) | | Swiss-Prot | VAR_054341 | Polymorphism | p.PRO161LEU | N/A | | OMIM | 604592.0006 | Disease | p.ARG444LEU | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | | OMIM | 604592.0002 | Disease | p.CYS464TER | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | | OMIM | 604592.0005 | Disease | p.GLY405ARG | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 |
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 |
|
223634720
VPP3_HUMAN RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 3; Short=V-ATPase 116 kDa isoform a3; AltName: Full=Osteoclastic proton pump 116 kDa subunit; Short=OC-116 kDa; Short=OC116; AltName: Full=T-cell immune regulator 1; AltName: Full=T-cell immune response cDNA7 protein; Short=TIRC7; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
8
2
3
1
6
