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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_051423 | Polymorphism | p.ALA43THR | N/A | | Swiss-Prot | VAR_043915 | Disease | p.ARG282HIS | Retinopathy exudative with bone marrow failure (ERBMF) | | Swiss-Prot | VAR_043916 | Disease | p.ARG282SER | Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) | | dbSNP | rs17102313 | Polymorphism | p.GLY237ASP | N/A | | Swiss-Prot | VAR_043914 | Disease | p.LYS280GLU | Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) | | Swiss-Prot | VAR_051425 | Polymorphism | p.PRO241SER | N/A | | OMIM | 604319.0004 | Disease | p.ARG282CYS | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | | OMIM | 604319.0002 | Disease | p.ARG282HIS | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3||REVESZ SYNDROME, INCLUDED | | OMIM | 604319.0003 | Disease | p.ARG282SER | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | | OMIM | 604319.0005 | Disease | p.GLN269TER | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | | OMIM | 604319.0007 | Disease | p.GLN271TER | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | | OMIM | 604319.0001 | Disease | p.LYS280GLU | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 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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21542262
TINF2_HUMAN RecName: Full=TERF1-interacting nuclear factor 2; AltName: Full=TRF1-interacting nuclear protein 2
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