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Known Diseases associated with this Protein: | DIAB
| DIABETES MELLITUS, PERMANENT NEONATAL
| DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
| DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
| DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;
| HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs5217 | Polymorphism | p.ARG108HIS | N/A | dbSNP | rs1800467 | Polymorphism | p.LEU183VAL | N/A | dbSNP | rs5215 | Polymorphism | p.VAL250ILE | N/A | OMIM | 600937.0004 | Disease | p.ARG114CYS | DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED | OMIM | 600937.0002 | Disease | p.ARG114HIS | DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;||DIAB | OMIM | 600937.0019 | Disease | p.ARG214HIS | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | OMIM | 600937.0015 | Disease | p.CYS79PHE | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | OMIM | 600937.0022 | Disease | p.GLU195LYS | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | OMIM | 600937.0020 | Disease | p.GLY69ARG | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | OMIM | 600937.0013 | Disease | p.HIS172ARG | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | OMIM | 600937.0016 | Disease | p.ILE80LEU | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | OMIM | 600937.0001 | Disease | p.LEU60PRO | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | OMIM | 600937.0007 | Disease | p.LYS83ARG | DIABETES MELLITUS, PERMANENT NEONATAL | OMIM | 600937.0008 | Disease | p.LYS83ASN | DIABETES MELLITUS, PERMANENT NEONATAL | OMIM | 600937.0011 | Disease | p.PRO167LEU | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 |
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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