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Known Diseases associated with this Protein: |  DIAB
| DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO
| DIABETES MELLITUS, PERMANENT NEONATAL
| DIABETES MELLITUS, PERMANENT NEONATAL, INCLUDED
| DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
| DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
| DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;
| DIABETES MELLITUS, TRANSIENT NEONATAL, 3
| DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED
| EXERCISE STRESS RESPONSE, IMPAIRED, ASSOCIATION WITH, INCLUD
| 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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 Default View:
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs5217 | Polymorphism | p.ARG195HIS | N/A | | dbSNP | rs1800467 | Polymorphism | p.LEU270VAL | N/A | | dbSNP | rs5215 | Polymorphism | p.VAL337ILE | N/A | | OMIM | 600937.0004 | Disease | p.ARG201CYS | DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED | | OMIM | 600937.0002 | Disease | p.ARG201HIS | DIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;||DIAB | | OMIM | 600937.0019 | Disease | p.ARG301HIS | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0006 | Disease | p.ARG50PRO | DIABETES MELLITUS, PERMANENT NEONATAL | | OMIM | 600937.0012 | Disease | p.CYS42ARG | DIABETES MELLITUS, TRANSIENT NEONATAL, 3||DIABETES MELLITUS, TYPE II, AUTOSOMAL DOMINANT, INCLUDED | | OMIM | 600937.0015 | Disease | p.CYS166PHE | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | | OMIM | 600937.0014 | Disease | p.GLU23LYS | DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO||EXERCISE STRESS RESPONSE, IMPAIRED, ASSOCIATION WITH, INCLUD | | OMIM | 600937.0022 | Disease | p.GLU282LYS | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0020 | Disease | p.GLY156ARG | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0018 | Disease | p.GLY53ARG | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | | OMIM | 600937.0021 | Disease | p.GLY53ASP | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | | OMIM | 600937.0017 | Disease | p.GLY53SER | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | | OMIM | 600937.0013 | Disease | p.HIS259ARG | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0016 | Disease | p.ILE167LEU | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | | OMIM | 600937.0001 | Disease | p.LEU147PRO | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0007 | Disease | p.LYS170ARG | DIABETES MELLITUS, PERMANENT NEONATAL | | OMIM | 600937.0008 | Disease | p.LYS170ASN | DIABETES MELLITUS, PERMANENT NEONATAL | | OMIM | 600937.0023 | Disease | p.PHE60TYR | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | | OMIM | 600937.0011 | Disease | p.PRO254LEU | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0009 | Disease | p.TYR12TER | HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | | OMIM | 600937.0005 | Disease | p.VAL59GLY | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | | OMIM | 600937.0003 | Disease | p.VAL59MET | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES||DIABETES MELLITUS, PERMANENT NEONATAL, INCLUDED |
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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62388888
ATP-sensitive inward rectifier potassium channel 11 isoform 1 [Homo sapiens]
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