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Results for the Protein: NP_001159762
261399884

ATP-sensitive inward rectifier potassium channel 11 isoform 2 [Homo sapiens]

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
12
3
12
3
0
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IRK - pfam01007




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs5217 Polymorphismp.ARG108HISN/A
dbSNPrs1800467 Polymorphismp.LEU183VALN/A
dbSNPrs5215 Polymorphismp.VAL250ILEN/A
OMIM600937.0004 Diseasep.ARG114CYSDIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED
OMIM600937.0002 Diseasep.ARG114HISDIABETES MELLITUS, PERMANENT NEONATAL||DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, INCLUDED;;||DIAB
OMIM600937.0019 Diseasep.ARG214HISHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
OMIM600937.0015 Diseasep.CYS79PHEDIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
OMIM600937.0022 Diseasep.GLU195LYSHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
OMIM600937.0020 Diseasep.GLY69ARGHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
OMIM600937.0013 Diseasep.HIS172ARGHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
OMIM600937.0016 Diseasep.ILE80LEUDIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
OMIM600937.0001 Diseasep.LEU60PROHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
OMIM600937.0007 Diseasep.LYS83ARGDIABETES MELLITUS, PERMANENT NEONATAL
OMIM600937.0008 Diseasep.LYS83ASNDIABETES MELLITUS, PERMANENT NEONATAL
OMIM600937.0011 Diseasep.PRO167LEUHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2



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