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Known Diseases associated with this Protein: |  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA
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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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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_042731 | Polymorphism | p.ALA813VAL | N/A | | Swiss-Prot | VAR_042730 | Polymorphism | p.ARG685GLN | N/A | | dbSNP | rs74922060 | Polymorphism | p.ARG339HIS | N/A | | dbSNP | rs79134187 | Polymorphism | p.LYS374ARG | N/A | | OMIM | 611716.0002 | Disease | p.ARG63TER | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA | | OMIM | 611716.0001 | Disease | p.GLN765TER | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA |
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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172046607
VPP2_HUMAN RecName: Full=V-type proton ATPase 116 kDa subunit a isoform 2; Short=V-ATPase 116 kDa isoform a2; AltName: Full=Lysosomal H(+)-transporting ATPase V0 subunit a2; AltName: Full=TJ6; AltName: Full=Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2
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