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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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| RunxI | pfam08504 | 8.5e-52 | 386 | 480 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 151385.0010 | Disease | p.ALA129GLU | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | | OMIM | 151385.0006 | Disease | p.ALA107PRO | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | | OMIM | 151385.0002 | Disease | p.ARG201GLN | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | | OMIM | 151385.0008 | Disease | p.HIS58ASN | TRANSIENT MYELOPROLIFERATIVE DISORDER OF DOWN SYNDROME||LEUKEMIA, ACUTE MYELOID, M0 SUBTYPE, INCLUDED | | OMIM | 151385.0003 | Disease | p.LYS83GLU | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY | | OMIM | 151385.0005 | Disease | p.TYR260TER | PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY |
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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runt-related transcription factor 1 isoform AML1c [Homo sapiens]
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