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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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p450 | pfam00067 | 3e-109 | 28 | 481 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs9501393 | Polymorphism | p.ARG235GLY | N/A | dbSNP | rs28615950 | Polymorphism | p.ARG209HIS | N/A | dbSNP | rs62402680 | Polymorphism | p.GLU266ASP | N/A | dbSNP | rs41315836 | Polymorphism | p.LEU279ARG | N/A | dbSNP | rs28539678 | Polymorphism | p.TRP272ARG | N/A | OMIM | 613815.0007 | Disease | p.GLY292SER | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||SALT-WASTING TYPE | OMIM | 613815.0034 | Disease | p.HIS62LEU | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | OMIM | 613815.0001 | Disease | p.ILE172ASN | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||CLASSIC TYPE | OMIM | 613815.0035 | Disease | p.LYS121GLN | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY | OMIM | 613815.0004 | Disease | p.PRO30LEU | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||NONCLASSIC TYPE | OMIM | 613815.0002 | Disease | p.VAL281LEU | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY,||NONCLASSIC TYPE||ADENOMA, CORTISOL-PRODUCING, INCLUD |
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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