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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 | 4.9e-155 | 52 | 511 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_016949 | Disease | p.ALA189VAL | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) | | Swiss-Prot | VAR_065243 | Disease | p.ALA359VAL | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) | | Swiss-Prot | VAR_016951 | Disease | p.ARG353TRP | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) | | Swiss-Prot | VAR_013944 | Polymorphism | p.GLU314LYS | N/A | | Swiss-Prot | VAR_065242 | Disease | p.LEU222PRO | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) | | Swiss-Prot | VAR_065241 | Disease | p.LEU141TRP | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) | | Swiss-Prot | VAR_065244 | Disease | p.VAL415GLU | Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) | | OMIM | 118485.0003 | Disease | p.ALA189VAL | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL||OR COMPLETE | | OMIM | 118485.0005 | Disease | p.ALA359VAL | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL||OR COMPLETE | | OMIM | 118485.0002 | Disease | p.ARG353TRP | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL||OR COMPLETE | | OMIM | 118485.0009 | Disease | p.LEU222PRO | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL||OR COMPLETE | | OMIM | 118485.0007 | Disease | p.LEU141TRP | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL||OR COMPLETE | | OMIM | 118485.0008 | Disease | p.VAL415GLU | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL||OR COMPLETE |
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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143811381
CP11A_HUMAN RecName: Full=Cholesterol side-chain cleavage enzyme, mitochondrial; AltName: Full=CYPXIA1; AltName: Full=Cholesterol desmolase; AltName: Full=Cytochrome P450 11A1; AltName: Full=Cytochrome P450(scc); Flags: Precursor
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