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Known Diseases associated with this Protein: |  CARCINOID TUMORS, INTESTINAL
| CARCINOID TUMORS, INTESTINAL, INCLUDED;;
| COWDEN DISEASE 3
| MERKEL CELL CARCINOMA, SOMATIC, INCLUDED;;
| PARAGANGLIOMA, CAROTID BODY, SOMATIC
| PARAGANGLIOMAS 1
| PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS, INCLUDED
| PARAGANGLIOMAS 1, INCLUDED;;
| PHEOCHROMOCYTOMA
| PHEOCHROMOCYTOMA, INCLUDED
| PHEOCHROMOCYTOMA, INCLUDED;;
| PHEOCHROMOCYTOMA, SOMATIC, INCLUDED;;
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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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| CybS | pfam05328 | 1.9e-06 | 57 | 132 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 602690.0012 | Disease | p.ARG22TER | PARAGANGLIOMAS 1 | | OMIM | 602690.0002 | Disease | p.ARG38TER | PARAGANGLIOMAS 1||PHEOCHROMOCYTOMA, INCLUDED | | OMIM | 602690.0004 | Disease | p.ASP92TYR | PARAGANGLIOMAS 1||PHEOCHROMOCYTOMA, INCLUDED | | OMIM | 602690.0025 | Disease | p.CYS11TER | PHEOCHROMOCYTOMA | | OMIM | 602690.0001 | Disease | p.GLN36TER | PARAGANGLIOMAS 1 | | OMIM | 602690.0011 | Disease | p.GLY12SER | COWDEN DISEASE 3||PARAGANGLIOMAS 1, INCLUDED;;||CARCINOID TUMORS, INTESTINAL, INCLUDED;;||PHEOCHROMOCYTOMA, INCLUDED | | OMIM | 602690.0019 | Disease | p.HIS50ARG | CARCINOID TUMORS, INTESTINAL||PHEOCHROMOCYTOMA, INCLUDED;;||MERKEL CELL CARCINOMA, SOMATIC, INCLUDED;;||COWDEN DISEASE 3 | | OMIM | 602690.0028 | Disease | p.HIS188ASN | COWDEN DISEASE 3 | | OMIM | 602690.0005 | Disease | p.HIS102LEU | PARAGANGLIOMAS 1 | | OMIM | 602690.0016 | Disease | p.LEU182PRO | PARAGANGLIOMAS 1 | | OMIM | 602690.0015 | Disease | p.MET1ILE | PARAGANGLIOMAS 1 | | OMIM | 602690.0021 | Disease | p.MET1VAL | PARAGANGLIOMA, CAROTID BODY, SOMATIC | | OMIM | 602690.0003 | Disease | p.PRO81LEU | PARAGANGLIOMAS 1||PHEOCHROMOCYTOMA, SOMATIC, INCLUDED;;||PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS, INCLUDED | | OMIM | 602690.0008 | Disease | p.SER32TER | PARAGANGLIOMAS 1 | | OMIM | 602690.0023 | Disease | p.TRP43TER | PARAGANGLIOMAS 1 | | OMIM | 602690.0026 | Disease | p.TRP5TER | PHEOCHROMOCYTOMA | | OMIM | 602690.0007 | Disease | p.TYR157CYS | PARAGANGLIOMAS 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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452406068
succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform d precursor [Homo sapiens]
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