|  | 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_049161 | Polymorphism | p.ASN362SER | N/A | | Swiss-Prot | VAR_049160 | Polymorphism | p.PRO243SER | N/A | | OMIM | 601093.0002 | Disease | p.ARG267GLN | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT||PENDRED SYNDROME, INCLUDED | | OMIM | 601093.0001 | Disease | p.GLY258GLU | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT,||DIGENIC |
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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150421552
FOXI1_HUMAN RecName: Full=Forkhead box protein I1; AltName: Full=Forkhead-related protein FKHL10; AltName: Full=Forkhead-related transcription factor 6; Short=FREAC-6; AltName: Full=Hepatocyte nuclear factor 3 forkhead homolog 3; Short=HFH-3; Short=HNF-3/fork-head homolog 3
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