Results for the protein: Q12809

Results for the Protein: Q12809

7531135

3757

KCNH2

NCBI, UniProt

KCNH2_HUMAN RecName: Full=Potassium voltage-gated channel subfamily H member 2; AltName: Full=Eag homolog; AltName: Full=Ether-a-go-go-related gene potassium channel 1; Short=ERG-1; Short=Eag-related protein 1; Short=Ether-a-go-go-related protein 1; Short=H-ERG; Short=hERG-1; Short=hERG1; AltName: Full=Voltage-gated potassium channel subunit Kv11.1

Known Diseases associated with this Protein:
  LONG QT SYNDROME 1/2, DIGENIC
  LONG QT SYNDROME 2
  LONG QT SYNDROME 2 (LQT2)
  LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
  LONG QT SYNDROME 2/3, DIGENIC
  LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
  LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
  LONG QT SYNDROME, BRADYCARDIA-INDUCED
  SHORT QT SYNDROME 1
  SHORT QT SYNDROME 1 (SQT1)

125

13

21

2

115

Tips:

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Default View: PAS - cd00130 PAC - smart00086 Ion_trans - pfam00520 Ion_trans_2 - pfam07885 CAP_ED - cd00038 cNMP - smart00100 cNMP_binding - pfam00027	Swiss-Prot Protein: Q12809 Identical to: NP_000229 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CAP_ED	cd00038	3.2e-26	742	853
Ion_trans	pfam00520	7e-28	454	659
cNMP_binding	pfam00027	3.7e-15	760	847
PAC	smart00086	6e-07	93	135
Ion_trans_2	pfam07885	2.8e-07	582	660
cNMP	smart00100	8.9e-23	742	859

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008919	Disease	p.ALA558PRO	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008913	Disease	p.ALA78PRO	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068260	Disease	p.ALA422THR	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036671	Polymorphism	p.ALA490THR	N/A
Swiss-Prot	VAR_014374	Disease	p.ALA561THR	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008580	Disease	p.ALA561VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008931	Disease	p.ALA614VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068252	Disease	p.ALA85VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068282	Disease	p.ALA913VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009911	Disease	p.ARG312CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068257	Disease	p.ARG328CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008579	Disease	p.ARG534CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008581	Disease	p.ARG582CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036674	Polymorphism	p.ARG696CYS	N/A
Swiss-Prot	VAR_036677	Polymorphism	p.ARG948CYS	N/A
Swiss-Prot	VAR_068253	Disease	p.ARG100GLN	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036682	Polymorphism	p.ARG1055GLN	N/A
Swiss-Prot	VAR_036670	Polymorphism	p.ARG181GLN	N/A
Swiss-Prot	VAR_009913	Disease	p.ARG531GLN	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008910	Disease	p.ARG56GLN	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036675	Disease	p.ARG752GLN	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036669	Disease	p.ARG100GLY	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068281	Disease	p.ARG887HIS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036673	Polymorphism	p.ARG528PRO	N/A
Swiss-Prot	VAR_068276	Disease	p.ARG744PRO	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008915	Disease	p.ARG176TRP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014383	Disease	p.ARG752TRP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036676	Polymorphism	p.ARG784TRP	N/A
Swiss-Prot	VAR_014386	Disease	p.ARG823TRP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014390	Disease	p.ARG922TRP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008578	Disease	p.ASN470ASP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008925	Disease	p.ASN588ASP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008932	Disease	p.ASN629ASP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068271	Disease	p.ASN635ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014387	Disease	p.ASN861ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068285	Disease	p.ASN996ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_023840	Disease	p.ASN588LYS	Short QT syndrome 1 (SQT1)
Swiss-Prot	VAR_008933	Disease	p.ASN629LYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009179	Disease	p.ASN629SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008936	Disease	p.ASN633SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008908	Disease	p.ASN33THR	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009916	Disease	p.ASP609ASN	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068280	Disease	p.ASP837GLY	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068262	Disease	p.ASP456TYR	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068277	Disease	p.ASP774TYR	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008911	Disease	p.CYS66GLY	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068278	Disease	p.GLU788ASP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014379	Disease	p.GLU637LYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008909	Disease	p.GLY53ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008922	Disease	p.GLY572ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068279	Disease	p.GLY820ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068283	Disease	p.GLY925ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068286	Disease	p.GLY1036ASP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008923	Disease	p.GLY572CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068254	Disease	p.GLY238SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068266	Disease	p.GLY572SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008924	Disease	p.GLY584SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008926	Disease	p.GLY601SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008927	Disease	p.GLY604SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014376	Disease	p.GLY626SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008583	Disease	p.GLY628SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068255	Disease	p.GLY306TRP	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009909	Disease	p.GLY47VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068270	Disease	p.GLY628VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008912	Disease	p.HIS70ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068264	Disease	p.HIS562PRO	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008582	Disease	p.ILE593ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068265	Disease	p.ILE571LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068250	Disease	p.ILE31SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009915	Disease	p.ILE593THR	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008914	Disease	p.LEU86ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068268	Disease	p.LEU622PHE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008920	Disease	p.LEU564PRO	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008918	Disease	p.LEU552SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014375	Disease	p.LEU615VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036672	Polymorphism	p.LYS525ASN	N/A
Swiss-Prot	VAR_014380	Disease	p.LYS638GLU	Long QT syndrome 2 (LQT2)
dbSNP	rs1805123	Polymorphism	p.LYS897THR	N/A
Swiss-Prot	VAR_014382	Disease	p.MET645LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014384	Disease	p.PHE805CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008907	Disease	p.PHE29LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014377	Disease	p.PHE627LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008937	Disease	p.PHE640LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014385	Disease	p.PHE805SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068272	Disease	p.PHE640VAL	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068267	Disease	p.PRO596ARG	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009910	Disease	p.PRO72GLN	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036679	Polymorphism	p.PRO1016LEU	N/A
dbSNP	rs41307271	Polymorphism	p.PRO1026LEU	N/A
Swiss-Prot	VAR_014373	Disease	p.PRO451LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068275	Disease	p.PRO721LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014389	Disease	p.PRO917LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_036678	Polymorphism	p.PRO1016SER	N/A
Swiss-Prot	VAR_036680	Polymorphism	p.PRO1020SER	N/A
Swiss-Prot	VAR_009912	Disease	p.PRO347SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014378	Disease	p.PRO632SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068249	Disease	p.SER26ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068256	Disease	p.SER320LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068251	Disease	p.SER55LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008938	Disease	p.SER818LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068273	Disease	p.SER641PHE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008917	Disease	p.THR474ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068269	Disease	p.THR623ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068284	Disease	p.THR983ILE	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068259	Disease	p.THR421MET	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008916	Disease	p.THR436MET	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008930	Disease	p.THR613MET	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_014371	Disease	p.THR65PRO	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_009914	Disease	p.TRP585CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068258	Disease	p.TYR420CYS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008921	Disease	p.TYR569HIS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008928	Disease	p.TYR611HIS	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_068261	Disease	p.TYR427SER	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008935	Disease	p.VAL630ALA	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008929	Disease	p.VAL612LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008934	Disease	p.VAL630LEU	Long QT syndrome 2 (LQT2)
Swiss-Prot	VAR_008584	Disease	p.VAL822MET	Long QT syndrome 2 (LQT2)
OMIM	152427.0025	Disease	p.ALA558PRO	LONG QT SYNDROME 2
OMIM	152427.0011	Disease	p.ALA490THR	LONG QT SYNDROME, BRADYCARDIA-INDUCED
OMIM	152427.0001	Disease	p.ALA561VAL	LONG QT SYNDROME 2
OMIM	152427.0026	Disease	p.ALA614VAL	LONG QT SYNDROME 2
OMIM	152427.0009	Disease	p.ARG582CYS	LONG QT SYNDROME 2
OMIM	152427.0022	Disease	p.ARG948CYS	LONG QT SYNDROME 1/2, DIGENIC
OMIM	152427.0016	Disease	p.ARG752GLN	LONG QT SYNDROME 2
OMIM	152427.0023	Disease	p.ARG100GLY	LONG QT SYNDROME 2/3, DIGENIC
OMIM	152427.0014	Disease	p.ARG784TRP	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
OMIM	152427.0024	Disease	p.ARG913VAL	LONG QT SYNDROME 2\|\|LONG QT SYNDROME 2/9, DIGENIC, INCLUDED
OMIM	152427.0002	Disease	p.ASN470ASP	LONG QT SYNDROME 2
OMIM	152427.0021	Disease	p.ASN861ILE	LONG QT SYNDROME 2\|\|LONG QT SYNDROME 2/5, DIGENIC, INCLUDED
OMIM	152427.0017 152427.0018	Disease	p.ASN588LYS	SHORT QT SYNDROME 1
OMIM	152427.0010	Disease	p.GLY572ARG	LONG QT SYNDROME 2
OMIM	152427.0008	Disease	p.GLY628SER	LONG QT SYNDROME 2
OMIM	152427.0004	Disease	p.ILE593ARG	LONG QT SYNDROME 2
OMIM	152427.0013	Disease	p.SER818LEU	LONG QT SYNDROME 2
OMIM	152427.0015	Disease	p.THR65PRO	LONG QT SYNDROME 2
OMIM	152427.0012	Disease	p.TRP1001TER	LONG QT SYNDROME 2
OMIM	152427.0027	Disease	p.TYR611HIS	LONG QT SYNDROME 2
OMIM	152427.0005	Disease	p.VAL822MET	LONG QT 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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