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Known Diseases associated with this Protein: | BONE MARROW FAILURE, TELOMERE-RELATED, 1
| DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
| DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED
| LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
| PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
| PULMONARY FIBROSIS, TELOMERE-RELATED, 1
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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OMIM | 187270.0001 | Disease | p.ALA202THR | BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0019 | Disease | p.ALA716THR | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0022 | Disease | p.ALA999THR | LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO | OMIM | 187270.0012 | Disease | p.ARG811CYS | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 | OMIM | 187270.0011 | Disease | p.ARG631GLN | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | OMIM | 187270.0008 | Disease | p.ARG865HIS | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | OMIM | 187270.0013 | Disease | p.ARG1TRP | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 | OMIM | 187270.0002 | Disease | p.HIS412TYR | BONE MARROW FAILURE, TELOMERE-RELATED, 1||DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED | OMIM | 187270.0015 | Disease | p.LEU55GLN | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | OMIM | 187270.0020 | Disease | p.LYS1ARG | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0007 | Disease | p.LYS1ASN | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | OMIM | 187270.0021 | Disease | p.PRO1LEU | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0014 | Disease | p.PRO704SER | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 | OMIM | 187270.0004 | Disease | p.TYR772CYS | BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0017 | Disease | p.VAL791ILE | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 | OMIM | 187270.0005 | Disease | p.VAL1027MET | BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0018 | Disease | p.VAL170MET | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0003 | Disease | p.VAL694MET | BONE MARROW FAILURE, TELOMERE-RELATED, 1 | OMIM | 187270.0017 | Disease | p.VAL867MET | PULMONARY FIBROSIS, TELOMERE-RELATED, 1 |
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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