Results for the protein: P15382

Results for the Protein: P15382

116416

3753

KCNE1

NCBI, UniProt

KCNE1_HUMAN RecName: Full=Potassium voltage-gated channel subfamily E member 1; AltName: Full=Delayed rectifier potassium channel subunit IsK; AltName: Full=IKs producing slow voltage-gated potassium channel subunit beta Mink; AltName: Full=Minimal potassium channel

Known Diseases associated with this Protein:
  JERVELL AND LANGE-NIELSEN SYNDROME 2
  JERVELL AND LANGE-NIELSEN SYNDROME 2 (JLNS2)
  LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
  LONG QT SYNDROME 5
  LONG QT SYNDROME 5 (LQT5)
  LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 5, INCLUDED

15

4

6

1

12

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Default View: ISK_Channel - pfam02060	Swiss-Prot Protein: P15382 Identical to: NP_001121141, NP_001121142, NP_000210, NP_001121140 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_009906	Polymorphism	p.ARG32HIS	N/A
Swiss-Prot	VAR_009907	Disease	p.ARG98TRP	Long QT syndrome 5 (LQT5)
Swiss-Prot	VAR_008901	Disease	p.ASP76ASN	Long QT syndrome 5 (LQT5)
Swiss-Prot	VAR_008902	Polymorphism	p.ASP85ASN	N/A
Swiss-Prot	VAR_048024	Polymorphism	p.GLY52ALA	N/A
Swiss-Prot	VAR_008899	Disease	p.LEU51HIS	Jervell and Lange-Nielsen syndrome 2 (JLNS2)
Swiss-Prot	VAR_009908	Disease	p.PRO127THR	Long QT syndrome 5 (LQT5)
dbSNP	rs1805127	Polymorphism	p.SER38GLY	N/A
Swiss-Prot	VAR_008900	Disease	p.SER74LEU	Long QT syndrome 5 (LQT5)
Swiss-Prot	VAR_008897	Disease	p.THR7ILE	Jervell and Lange-Nielsen syndrome 2 (JLNS2)
Swiss-Prot	VAR_008903	Disease	p.TRP87ARG	Long QT syndrome 5 (LQT5)
Swiss-Prot	VAR_012802	Disease	p.VAL109ILE	Long QT syndrome 5 (LQT5)
Swiss-Prot	VAR_008898	Disease	p.VAL47PHE	Jervell and Lange-Nielsen syndrome 2 (JLNS2)
OMIM	176261.0003	Disease	p.ASP76ASN	JERVELL AND LANGE-NIELSEN SYNDROME 2\|\|LONG QT SYNDROME 5, INCLUDED
OMIM	176261.0005	Disease	p.ASP85ASN	LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO\|\|LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
OMIM	176261.0001	Disease	p.LEU60PRO	JERVELL AND LANGE-NIELSEN SYNDROME 2
OMIM	176261.0004	Disease	p.SER74LEU	LONG QT SYNDROME 5
OMIM	176261.0002	Disease	p.THR7ILE	JERVELL AND LANGE-NIELSEN SYNDROME 2
OMIM	176261.0001	Disease	p.THR59PRO	JERVELL AND LANGE-NIELSEN SYNDROME 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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