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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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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_069098 | Disease | p.SER225ASN | Mental retardation, X-linked 3 (MRX3) | | Swiss-Prot | VAR_050043 | Polymorphism | p.SER2004ILE | N/A | | Swiss-Prot | VAR_019813 | Polymorphism | p.SER1164PRO | N/A | | OMIM | 300019.0005 | Disease | p.ALA73THR | METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE | | OMIM | 300019.0003 | Disease | p.ALA115VAL | METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE | | OMIM | 300019.0004 | Disease | p.ALA73VAL | METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE | | OMIM | 300019.0002 | Disease | p.SER225ASN | MENTAL RETARDATION, X-LINKED 3 |
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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160332311
HCFC1_HUMAN RecName: Full=Host cell factor 1; Short=HCF; Short=HCF-1; AltName: Full=C1 factor; AltName: Full=CFF; AltName: Full=VCAF; AltName: Full=VP16 accessory protein; Contains: RecName: Full=HCF N-terminal chain 1; Contains: RecName: Full=HCF N-terminal chain 2; Contains: RecName: Full=HCF N-terminal chain 3; Contains: RecName: Full=HCF N-terminal chain 4; Contains: RecName: Full=HCF N-terminal chain 5; Contains: RecName: Full=HCF N-terminal chain 6; Contains: RecName: Full=HCF C-terminal chain 1; Contains: RecName: Full=HCF C-terminal chain 2; Contains: RecName: Full=HCF C-terminal chain 3; Contains: RecName: Full=HCF C-terminal chain 4; Contains: RecName: Full=HCF C-terminal chain 5; Contains: RecName: Full=HCF C-terminal chain 6
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