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Known Diseases associated with this Protein: |  CHILD SYNDROME
| CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (CHILD)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_065289 | Disease | p.ALA182PRO | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) | | Swiss-Prot | VAR_010207 | Disease | p.ALA105VAL | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) | | Swiss-Prot | VAR_010208 | Disease | p.GLY205SER | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) | | OMIM | 300275.0005 | Disease | p.ALA182PRO | CHILD SYNDROME | | OMIM | 300275.0001 | Disease | p.ALA105VAL | CHILD SYNDROME | | OMIM | 300275.0004 | Disease | p.ARG88TER | CHILD SYNDROME | | OMIM | 300275.0003 | Disease | p.GLN210TER | CHILD SYNDROME | | OMIM | 300275.0006 | Disease | p.GLU151TER | CHILD SYNDROME | | OMIM | 300275.0002 | Disease | p.GLY205SER | CHILD SYNDROME |
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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8488997
NSDHL_HUMAN RecName: Full=Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; AltName: Full=Protein H105e3
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