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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068852 | Disease | p.ARG279PRO | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) | | Swiss-Prot | VAR_068848 | Disease | p.ASP274ASN | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) | | Swiss-Prot | VAR_068851 | Disease | p.LYS278GLU | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) | | Swiss-Prot | VAR_068849 | Disease | p.PHE276SER | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) | | Swiss-Prot | VAR_068850 | Disease | p.PHE276VAL | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) | | OMIM | 600856.0009 | Disease | p.ARG279PRO | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA||CONGENITA, AND GENITAL ANOMALIES | | OMIM | 600856.0010 | Disease | p.ASP274ASN | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA||CONGENITA, AND GENITAL ANOMALIES | | OMIM | 600856.0001 | Disease | p.GLU47TER | BECKWITH-WIEDEMANN SYNDROME | | OMIM | 600856.0011 | Disease | p.LYS278GLU | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA||CONGENITA, AND GENITAL ANOMALIES | | OMIM | 600856.0008 | Disease | p.PHE276SER | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA||CONGENITA, AND GENITAL ANOMALIES | | OMIM | 600856.0007 | Disease | p.PHE276VAL | INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA||CONGENITA, AND GENITAL ANOMALIES | | OMIM | 600856.0004 | Disease | p.SER247TER | BECKWITH-WIEDEMANN 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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1705731
CDN1C_HUMAN RecName: Full=Cyclin-dependent kinase inhibitor 1C; AltName: Full=Cyclin-dependent kinase inhibitor p57; AltName: Full=p57Kip2
12
0
7
0
5
