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Known Diseases associated with this Protein: | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
| DEFICIENCY
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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 | 7.1e-50 | 42 | 433 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs4541 | Polymorphism | p.ALA386VAL | N/A | dbSNP | rs4534 | Polymorphism | p.ARG43GLN | N/A | dbSNP | rs142163070 | Polymorphism | p.LYS173ARG | N/A | OMIM | 610613.0017 | Disease | p.ALA368ASP | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0004 | Disease | p.ARG374GLN | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0001 | Disease | p.ARG1HIS | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0007 | Disease | p.ASN133HIS | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0016 | Disease | p.PRO94LEU | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0009 | Disease | p.PRO42SER | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0003 | Disease | p.THR318MET | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0008 | Disease | p.THR319MET | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0006 | Disease | p.TRP116TER | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY | OMIM | 610613.0015 | Disease | p.TYR1TER | ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY |
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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