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Known Diseases associated with this Protein: | VON WILLEBRAND DISEASE, TYPE 1
| VON WILLEBRAND DISEASE, TYPE 1, INCLUDED
| VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO
| VON WILLEBRAND DISEASE, TYPE 2A
| VON WILLEBRAND DISEASE, TYPE 2A/IIE
| VON WILLEBRAND DISEASE, TYPE 2B
| VON WILLEBRAND DISEASE, TYPE 2CB
| VON WILLEBRAND DISEASE, TYPE 2M
| VON WILLEBRAND DISEASE, TYPE 2N
| VON WILLEBRAND DISEASE, TYPE 3
| VON WILLEBRAND FACTOR VICENZA
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs76342212 rs2229446 | Polymorphism | p.ARG2185GLN | N/A | dbSNP | rs1800387 | Polymorphism | p.ASN318LYS | N/A | dbSNP | rs11063987 | Polymorphism | p.ASN1435SER | N/A | dbSNP | rs1800383 | Polymorphism | p.ASP1472HIS | N/A | dbSNP | rs216321 | Polymorphism | p.GLN852ARG | N/A | dbSNP | rs7962217 | Polymorphism | p.GLY2705ARG | N/A | dbSNP | rs1800378 | Polymorphism | p.HIS484ARG | N/A | dbSNP | rs57950734 | Polymorphism | p.HIS817GLN | N/A | dbSNP | rs2228317 | Polymorphism | p.MET740ILE | N/A | dbSNP | rs216311 | Polymorphism | p.THR1381ALA | N/A | dbSNP | rs1063856 | Polymorphism | p.THR789ALA | N/A | dbSNP | rs78353028 | Polymorphism | p.THR2666MET | N/A | dbSNP | rs1800377 | Polymorphism | p.VAL471ILE | N/A | dbSNP | rs1800385 | Polymorphism | p.VAL1565LEU | N/A | OMIM | 613160.0006 | Disease | p.ARG1308CYS | VON WILLEBRAND DISEASE, TYPE 2B | OMIM | 613160.0008 | Disease | p.ARG1341GLN | VON WILLEBRAND DISEASE, TYPE 2B | OMIM | 613160.0013 | Disease | p.ARG854GLN | VON WILLEBRAND DISEASE, TYPE 2N||VON WILLEBRAND DISEASE, TYPE 1, INCLUDED | OMIM | 613160.0027 | Disease | p.ARG1205HIS | VON WILLEBRAND DISEASE, TYPE 1||VON WILLEBRAND FACTOR VICENZA | OMIM | 613160.0041 | Disease | p.ARG760HIS | VON WILLEBRAND DISEASE, TYPE 1 | OMIM | 613160.0015 | Disease | p.ARG1659TER | VON WILLEBRAND DISEASE, TYPE 3||VON WILLEBRAND DISEASE, TYPE 1, INCLUDED | OMIM | 613160.0016 | Disease | p.ARG1852TER | VON WILLEBRAND DISEASE, TYPE 3||VON WILLEBRAND DISEASE, TYPE 1, INCLUDED | OMIM | 613160.0017 | Disease | p.ARG2635TER | VON WILLEBRAND DISEASE, TYPE 3 | OMIM | 613160.0005 | Disease | p.ARG1306TRP | VON WILLEBRAND DISEASE, TYPE 2B | OMIM | 613160.0002 | Disease | p.ARG1597TRP | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0012 | Disease | p.ARG816TRP | VON WILLEBRAND DISEASE, TYPE 2N | OMIM | 613160.0037 | Disease | p.ASN528SER | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0036 | Disease | p.CYS1060ARG | VON WILLEBRAND DISEASE, TYPE 2N | OMIM | 613160.0028 | Disease | p.CYS1149ARG | VON WILLEBRAND DISEASE, TYPE 1 | OMIM | 613160.0019 | Disease | p.CYS1272ARG | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0024 | Disease | p.CYS2773ARG | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0034 | Disease | p.CYS2362PHE | VON WILLEBRAND DISEASE, TYPE 3 | OMIM | 613160.0032 | Disease | p.CYS804PHE | VON WILLEBRAND DISEASE, TYPE 2N | OMIM | 613160.0023 | Disease | p.GLY550ARG | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0018 | Disease | p.GLY1324SER | VON WILLEBRAND DISEASE, TYPE 2M | OMIM | 613160.0001 | Disease | p.ILE1628THR | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0022 | Disease | p.PHE1514CYS | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0042 | Disease | p.SER1783ALA | VON WILLEBRAND DISEASE, TYPE 2CB | OMIM | 613160.0030 | Disease | p.SER1285PHE | VON WILLEBRAND DISEASE, TYPE 2M | OMIM | 613160.0009 | Disease | p.SER1613PRO | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0011 | Disease | p.THR791MET | VON WILLEBRAND DISEASE, TYPE 2N | OMIM | 613160.0004 | Disease | p.TRP1313CYS | VON WILLEBRAND DISEASE, TYPE 2B | OMIM | 613160.0040 | Disease | p.TRP1745CYS | VON WILLEBRAND DISEASE, TYPE 2CB | OMIM | 613160.0039 | Disease | p.TYR1146CYS | VON WILLEBRAND DISEASE, TYPE 2A/IIE | OMIM | 613160.0029 | Disease | p.TYR1584CYS | VON WILLEBRAND DISEASE, TYPE 1, SUSCEPTIBILITY TO | OMIM | 613160.0031 | Disease | p.TYR795CYS | VON WILLEBRAND DISEASE, TYPE 2N | OMIM | 613160.0035 | Disease | p.TYR357TER | VON WILLEBRAND DISEASE, TYPE 2N | OMIM | 613160.0003 | Disease | p.VAL1607ASP | VON WILLEBRAND DISEASE, TYPE 2A | OMIM | 613160.0020 | Disease | p.VAL1314LEU | VON WILLEBRAND DISEASE, TYPE 2B | OMIM | 613160.0007 | Disease | p.VAL1316MET | VON WILLEBRAND DISEASE, TYPE 2B |
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
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