Results for the protein: P48048

Results for the Protein: P48048

1352479

3758

KCNJ1

NCBI, UniProt

IRK1_HUMAN RecName: Full=ATP-sensitive inward rectifier potassium channel 1; AltName: Full=ATP-regulated potassium channel ROM-K; AltName: Full=Inward rectifier K(+) channel Kir1.1; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 1

Known Diseases associated with this Protein:
BARTTER SYNDROME 2 (BS2)
BARTTER SYNDROME, ANTENATAL, TYPE 2

22

2

9

0

15

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Default View: IRK - pfam01007	Swiss-Prot Protein: P48048 Identical to: NP_000211 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_001555	Disease	p.ALA198THR	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_019725	Disease	p.ALA214VAL	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_049668	Polymorphism	p.ARG6TRP	N/A
Swiss-Prot	VAR_019724	Disease	p.ASN124LYS	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001551	Disease	p.ASP108HIS	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001549	Disease	p.ASP74TYR	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001554	Disease	p.GLY167GLU	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_019727	Disease	p.MET357THR	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001552	Disease	p.PRO110LEU	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_019726	Disease	p.SER219ARG	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_036426	Polymorphism	p.SER115PHE	N/A
Swiss-Prot	VAR_001550	Disease	p.TRP99CYS	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001553	Disease	p.VAL122GLU	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001548	Disease	p.VAL72GLU	Bartter syndrome 2 (BS2)
Swiss-Prot	VAR_001556	Disease	p.VAL315GLY	Bartter syndrome 2 (BS2)
OMIM	600359.0007	Disease	p.ALA198THR	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0005	Disease	p.ALA195VAL	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0009	Disease	p.ASP108HIS	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0008	Disease	p.GLY167GLU	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0010	Disease	p.LYS124ASN	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0006	Disease	p.MET338THR	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0003	Disease	p.SER200ARG	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0004	Disease	p.TRP58TER	BARTTER SYNDROME, ANTENATAL, TYPE 2
OMIM	600359.0001	Disease	p.TYR60TER	BARTTER SYNDROME, ANTENATAL, TYPE 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.

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