Results for the protein: Q14654

Results for the Protein: Q14654

76803775

3767

KCNJ11

NCBI, UniProt

IRK11_HUMAN RecName: Full=ATP-sensitive inward rectifier potassium channel 11; AltName: Full=IKATP; AltName: Full=Inward rectifier K(+) channel Kir6.2; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 11

Known Diseases associated with this Protein:
  DIABETES MELLITUS, PERMANENT NEONATAL (PNDM)
  FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA 2 (HHF2)
  TRANSIENT NEONATAL DIABETES MELLITUS 3 (TNDM3)

40

9

0

0

49

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Default View: IRK - pfam01007	Swiss-Prot Protein: Q14654 Default View:

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 ↕
Swiss-Prot	VAR_031336	Disease	p.ALA101ASP	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_055978	Polymorphism	p.ALA18GLY	N/A
Swiss-Prot	VAR_026511	Disease	p.ARG201CYS	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031333	Disease	p.ARG50GLN	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_014929	Polymorphism	p.ARG195HIS	N/A
Swiss-Prot	VAR_026512	Disease	p.ARG201HIS	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031347	Disease	p.ARG301HIS	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031329	Disease	p.ARG34HIS	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031339	Disease	p.ARG136LEU	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031344	Disease	p.ARG201LEU	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026500	Disease	p.ARG50PRO	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031331	Disease	p.CYS42ARG	Transient neonatal diabetes mellitus 3 (TNDM3)
Swiss-Prot	VAR_031342	Disease	p.CYS166TYR	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026501	Disease	p.GLN52ARG	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_008659	Polymorphism	p.GLU10LYS	N/A
Swiss-Prot	VAR_008660	Polymorphism	p.GLU23LYS	N/A
Swiss-Prot	VAR_026515	Disease	p.GLU322LYS	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031338	Disease	p.GLY134ALA	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_026502	Disease	p.GLY53ARG	Transient neonatal diabetes mellitus 3 (TNDM3)
Swiss-Prot	VAR_031330	Disease	p.GLY40ASP	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031334	Disease	p.GLY53ASP	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026503	Disease	p.GLY53SER	Transient neonatal diabetes mellitus 3 (TNDM3)
Swiss-Prot	VAR_031345	Disease	p.HIS259ARG	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031332	Disease	p.HIS46TYR	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026514	Disease	p.ILE296LEU	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031340	Polymorphism	p.ILE148SER	N/A
Swiss-Prot	VAR_026510	Disease	p.ILE182VAL	Transient neonatal diabetes mellitus 3 (TNDM3)
Swiss-Prot	VAR_008662	Polymorphism	p.ILE337VAL	N/A
Swiss-Prot	VAR_001557	Disease	p.LEU147PRO	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031341	Disease	p.LEU164PRO	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_008663	Polymorphism	p.LEU355PRO	N/A
Swiss-Prot	VAR_008661	Polymorphism	p.LEU270VAL	N/A
Swiss-Prot	VAR_026509	Disease	p.LYS170ARG	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026508	Disease	p.LYS170ASN	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026506	Disease	p.LYS67ASN	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031343	Disease	p.LYS170THR	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026517	Disease	p.PHE333ILE	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026498	Disease	p.PHE35LEU	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031335	Disease	p.PHE55LEU	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_026499	Disease	p.PHE35VAL	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026513	Disease	p.PRO254LEU	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_031346	Disease	p.PRO266LEU	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_008665	Polymorphism	p.SER385CYS	N/A
Swiss-Prot	VAR_031337	Disease	p.SER116PRO	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_026507	Disease	p.TRP91ARG	Familial hyperinsulinemic hypoglycemia 2 (HHF2)
Swiss-Prot	VAR_026516	Disease	p.TYR330CYS	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_031348	Disease	p.TYR330SER	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026504	Disease	p.VAL59GLY	Diabetes mellitus, permanent neonatal (PNDM)
Swiss-Prot	VAR_026505	Disease	p.VAL59MET	Diabetes mellitus, permanent neonatal (PNDM)

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.

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