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Protein

Potassium voltage-gated channel subfamily H member 2

Gene

KCNH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi742 – 842101cNMPAdd
BLAST

GO - Molecular functioni

  • C3HC4-type RING finger domain binding Source: BHF-UCL
  • delayed rectifier potassium channel activity Source: BHF-UCL
  • identical protein binding Source: IntAct
  • inward rectifier potassium channel activity Source: BHF-UCL
  • phosphorelay sensor kinase activity Source: InterPro
  • protein homodimerization activity Source: BHF-UCL
  • scaffold protein binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL
  • voltage-gated potassium channel activity Source: BHF-UCL
  • voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization Source: BHF-UCL
  • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization Source: BHF-UCL

GO - Biological processi

  • cardiac conduction Source: Reactome
  • cardiac muscle contraction Source: BHF-UCL
  • cellular response to drug Source: BHF-UCL
  • membrane depolarization during action potential Source: BHF-UCL
  • membrane repolarization during action potential Source: BHF-UCL
  • membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane repolarization during ventricular cardiac muscle cell action potential Source: BHF-UCL
  • negative regulation of potassium ion export Source: BHF-UCL
  • negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  • potassium ion export Source: BHF-UCL
  • potassium ion export across plasma membrane Source: BHF-UCL
  • potassium ion homeostasis Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of heart rate by hormone Source: BHF-UCL
  • regulation of membrane potential Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of potassium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiR-HSA-1296072. Voltage gated Potassium channels.
R-HSA-5576890. Phase 3 - rapid repolarisation.
SignaLinkiQ12809.
SIGNORiQ12809.

Protein family/group databases

TCDBi1.A.1.20.1. the voltage-gated ion channel (vic) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 2
Alternative name(s):
Eag homolog
Ether-a-go-go-related gene potassium channel 1
Short name:
ERG-1
Short name:
Eag-related protein 1
Short name:
Ether-a-go-go-related protein 1
Short name:
H-ERG
Short name:
hERG-1
Short name:
hERG1
Voltage-gated potassium channel subunit Kv11.1
Gene namesi
Name:KCNH2
Synonyms:ERG, ERG1, HERG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:6251. KCNH2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 403403CytoplasmicSequence analysisAdd
BLAST
Transmembranei404 – 42421Helical; Name=Segment S1Sequence analysisAdd
BLAST
Topological domaini425 – 45026ExtracellularSequence analysisAdd
BLAST
Transmembranei451 – 47121Helical; Name=Segment S2Sequence analysisAdd
BLAST
Topological domaini472 – 49524CytoplasmicSequence analysisAdd
BLAST
Transmembranei496 – 51621Helical; Name=Segment S3Sequence analysisAdd
BLAST
Topological domaini517 – 5204ExtracellularSequence analysis
Transmembranei521 – 54121Helical; Voltage-sensor; Name=Segment S4Sequence analysisAdd
BLAST
Topological domaini542 – 5476CytoplasmicSequence analysis
Transmembranei548 – 56821Helical; Name=Segment S5Sequence analysisAdd
BLAST
Topological domaini569 – 61143ExtracellularSequence analysisAdd
BLAST
Intramembranei612 – 63221Pore-forming; Name=Segment H5Sequence analysisAdd
BLAST
Topological domaini633 – 6386ExtracellularSequence analysis
Transmembranei639 – 65921Helical; Name=Segment S6Sequence analysisAdd
BLAST
Topological domaini660 – 1159500CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • perinuclear region of cytoplasm Source: BHF-UCL
  • plasma membrane Source: BHF-UCL
  • voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Long QT syndrome 2 (LQT2)27 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2.
See also OMIM:613688
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161D → A in LQT2; unknown pathological significance. 1 Publication
VAR_074765
Natural varianti20 – 201R → G in LQT2; unknown pathological significance. 1 Publication
VAR_074766
Natural varianti26 – 261S → I in LQT2. 1 Publication
VAR_068249
Natural varianti29 – 291F → L in LQT2. 3 Publications
VAR_008907
Natural varianti30 – 301I → T in LQT2; unknown pathological significance. 1 Publication
VAR_074767
Natural varianti31 – 311I → S in LQT2. 1 Publication
VAR_068250
Natural varianti32 – 321A → T in LQT2; unknown pathological significance. 1 Publication
VAR_074768
Natural varianti33 – 331N → T in LQT2. 1 Publication
VAR_008908
Natural varianti41 – 411V → F in LQT2; unknown pathological significance. 1 Publication
VAR_074769
Natural varianti43 – 431Y → C in LQT2; unknown pathological significance. 1 Publication
VAR_074770
Natural varianti45 – 451N → Y in LQT2; unknown pathological significance. 1 Publication
VAR_074771
Natural varianti47 – 471G → V in LQT2.
VAR_009909
Natural varianti49 – 491C → Y in LQT2; unknown pathological significance. 1 Publication
VAR_074772
Natural varianti53 – 531G → D in LQT2; unknown pathological significance. 1 Publication
VAR_074773
Natural varianti53 – 531G → R in LQT2. 2 Publications
VAR_008909
Natural varianti54 – 541Y → H in LQT2; unknown pathological significance. 1 Publication
VAR_074774
Natural varianti55 – 551S → L in LQT2. 1 Publication
VAR_068251
Natural varianti56 – 561R → Q in LQT2. 1 Publication
VAR_008910
Natural varianti57 – 571A → P in LQT2; unknown pathological significance. 1 Publication
VAR_074775
Natural varianti58 – 581E → A in LQT2; unknown pathological significance. 1 Publication
VAR_074776
Natural varianti58 – 581E → D in LQT2; unknown pathological significance. 1 Publication
VAR_074777
Natural varianti58 – 581E → G in LQT2; unknown pathological significance. 1 Publication
VAR_074778
Natural varianti64 – 641C → W in LQT2; unknown pathological significance. 1 Publication
VAR_074779
Natural varianti65 – 651T → P in LQT2. 2 Publications
Corresponds to variant rs28933095 [ dbSNP | Ensembl ].
VAR_014371
Natural varianti66 – 661C → G in LQT2. 1 Publication
VAR_008911
Natural varianti68 – 681F → L in LQT2; unknown pathological significance. 1 Publication
VAR_074780
Natural varianti70 – 701H → N in LQT2; unknown pathological significance. 1 Publication
VAR_074781
Natural varianti70 – 701H → R in LQT2. 3 Publications
VAR_008912
Natural varianti71 – 711G → R in LQT2; unknown pathological significance. 1 Publication
VAR_074782
Natural varianti72 – 809PRTQRRAAA → RPV in LQT2; unknown pathological significance. 1 Publication
VAR_074783
Natural varianti72 – 721P → L in LQT2; unknown pathological significance. 1 Publication
VAR_074784
Natural varianti72 – 721P → Q in LQT2; unknown pathological significance. 1 Publication
VAR_009910
Natural varianti74 – 741T → M in LQT2. 2 Publications
VAR_074785
Natural varianti74 – 741T → P in LQT2; unknown pathological significance. 1 Publication
VAR_074786
Natural varianti74 – 741T → R in LQT2; unknown pathological significance. 1 Publication
VAR_074787
Natural varianti78 – 781A → P in LQT2. 2 Publications
VAR_008913
Natural varianti85 – 851A → V in LQT2. 2 Publications
VAR_068252
Natural varianti86 – 861L → P in LQT2; unknown pathological significance. 1 Publication
VAR_074788
Natural varianti86 – 861L → R in LQT2. 1 Publication
VAR_008914
Natural varianti94 – 941V → G in LQT2; unknown pathological significance. 1 Publication
VAR_074789
Natural varianti100 – 1001R → G in LQT2; digenic; the patient also carries mutation N-1819 on SCN5A. 1 Publication
VAR_036669
Natural varianti100 – 1001R → Q in LQT2. 2 Publications
VAR_068253
Natural varianti100 – 1001R → W in LQT2; unknown pathological significance. 1 Publication
VAR_074790
Natural varianti102 – 1021D → A in LQT2; unknown pathological significance. 1 Publication
VAR_074791
Natural varianti106 – 1061F → Y in LQT2; unknown pathological significance. 1 Publication
VAR_074792
Natural varianti108 – 1081C → R in LQT2; unknown pathological significance. 1 Publication
VAR_074793
Natural varianti114 – 1141P → S in LQT2; unknown pathological significance. 1 Publication
VAR_074794
Natural varianti125 – 1251F → C in LQT2; unknown pathological significance. 1 Publication
VAR_074795
Natural varianti141 – 1411P → L in LQT2; unknown pathological significance. 1 Publication
VAR_074796
Natural varianti149 – 1491G → A in LQT2; unknown pathological significance. 1 Publication
VAR_074797
Natural varianti164 – 1641R → H in LQT2; unknown pathological significance. 1 Publication
VAR_074798
Natural varianti176 – 1761R → W in LQT2. 1 Publication
Corresponds to variant rs36210422 [ dbSNP | Ensembl ].
VAR_008915
Natural varianti218 – 2181M → V in LQT2; unknown pathological significance. 1 Publication
VAR_074799
Natural varianti238 – 2381G → S in LQT2. 1 Publication
VAR_068254
Natural varianti242 – 2421R → G in LQT2; unknown pathological significance. 1 Publication
VAR_074800
Natural varianti251 – 2511P → S in LQT2; unknown pathological significance. 1 Publication
VAR_074801
Natural varianti259 – 2591D → N in LQT2; unknown pathological significance. 1 Publication
VAR_074802
Natural varianti277 – 2771A → D in LQT2; unknown pathological significance. 1 Publication
VAR_074803
Natural varianti291 – 2911M → T in LQT2; unknown pathological significance. 1 Publication
VAR_074804
Natural varianti301 – 3011R → L in LQT2; unknown pathological significance. 1 Publication
VAR_074805
Natural varianti306 – 3061G → W in LQT2. 1 Publication
VAR_068255
Natural varianti312 – 3121R → C in LQT2; unknown pathological significance. 1 Publication
VAR_009911
Natural varianti314 – 3141G → S in LQT2; unknown pathological significance. 1 Publication
VAR_074806
Natural varianti320 – 3201S → L in LQT2. 1 Publication
VAR_068256
Natural varianti323 – 3231D → N in LQT2; unknown pathological significance. 1 Publication
VAR_074807
Natural varianti328 – 3281R → C in LQT2. 2 Publications
VAR_068257
Natural varianti347 – 3471P → S in LQT2.
VAR_009912
Natural varianti402 – 4021H → R in LQT2; unknown pathological significance. 1 Publication
VAR_074808
Natural varianti410 – 4101W → S in LQT2; unknown pathological significance. 1 Publication
VAR_074809
Natural varianti413 – 4131L → P in LQT2. 1 Publication
VAR_074684
Natural varianti420 – 4201Y → C in LQT2. 1 Publication
VAR_068258
Natural varianti421 – 4211T → M in LQT2. 2 Publications
VAR_068259
Natural varianti422 – 4221A → T in LQT2. 1 Publication
VAR_068260
Natural varianti426 – 4261P → H in LQT2; unknown pathological significance. 1 Publication
VAR_074810
Natural varianti427 – 4271Y → C in LQT2; unknown pathological significance. 1 Publication
VAR_074811
Natural varianti427 – 4271Y → H in LQT2. 2 Publications
VAR_074812
Natural varianti427 – 4271Y → S in LQT2. 1 Publication
VAR_068261
Natural varianti428 – 4281S → L in LQT2; unknown pathological significance. 1 Publication
VAR_074813
Natural varianti431 – 4311F → L in LQT2; unknown pathological significance. 1 Publication
VAR_074814
Natural varianti436 – 4361T → M in LQT2.
VAR_008916
Natural varianti440 – 4401P → L in LQT2; unknown pathological significance. 1 Publication
VAR_074815
Natural varianti444 – 4441E → D in LQT2. 1 Publication
VAR_074685
Natural varianti451 – 4511P → L in LQT2. 2 Publications
VAR_014373
Natural varianti456 – 4561D → Y in LQT2. 1 Publication
VAR_068262
Natural varianti460 – 4601D → Y in LQT2; unknown pathological significance. 1 Publication
VAR_074816
Natural varianti466 – 4661D → Y in LQT2; unknown pathological significance. 1 Publication
VAR_074817
Natural varianti470 – 4701N → D in LQT2; aberrant protein folding increases the association of mutant KCNH2 with CANX and results in defective protein trafficking. 2 Publications
VAR_008578
Natural varianti473 – 4731T → N in LQT2; unknown pathological significance. 1 Publication
VAR_074818
Natural varianti474 – 4741T → I in LQT2. 1 Publication
VAR_008917
Natural varianti475 – 4751Y → C in LQT2; unknown pathological significance. 1 Publication
VAR_074819
Natural varianti475 – 4751Missing in LQT2. 1 Publication
VAR_068263
Natural varianti476 – 4761V → I in LQT2; unknown pathological significance. 1 Publication
VAR_074820
Natural varianti490 – 4901A → T in LQT2; bradycardia-induced. 2 Publications
Corresponds to variant rs28928905 [ dbSNP | Ensembl ].
VAR_036671
Natural varianti493 – 4931Y → C in LQT2; unknown pathological significance. 1 Publication
VAR_074821
Natural varianti493 – 4931Y → S in LQT2; unknown pathological significance. 1 Publication
VAR_074822
Natural varianti500 – 5089Missing in LQT2.
VAR_009178
Natural varianti501 – 5011D → H in LQT2; unknown pathological significance. 1 Publication
VAR_074823
Natural varianti501 – 5011D → N in LQT2; unknown pathological significance. 1 Publication
VAR_074824
Natural varianti525 – 5251K → N in LQT2; located on the same allele as Pro-528. 1 Publication
VAR_036672
Natural varianti528 – 5281R → P in LQT2; located on the same allele as Asn-525. 1 Publication
VAR_036673
Natural varianti531 – 5311R → Q in LQT2.
VAR_009913
Natural varianti531 – 5311R → W in LQT2; unknown pathological significance. 1 Publication
VAR_074825
Natural varianti534 – 5341R → C in LQT2. 3 Publications
VAR_008579
Natural varianti534 – 5341R → L in LQT2. 2 Publications
VAR_074826
Natural varianti552 – 5521L → S in LQT2. 2 Publications
VAR_008918
Natural varianti558 – 5581A → E in LQT2; unknown pathological significance. 1 Publication
VAR_074827
Natural varianti558 – 5581A → P in LQT2. 1 Publication
VAR_008919
Natural varianti559 – 5591L → H in LQT2. 1 Publication
VAR_074686
Natural varianti561 – 5611A → T in LQT2. 3 Publications
VAR_014374
Natural varianti561 – 5611A → V in LQT2; the mutation reduces wild-type channel expression. 4 Publications
VAR_008580
Natural varianti562 – 5621H → P in LQT2. 1 Publication
VAR_068264
Natural varianti562 – 5621H → R in LQT2; unknown pathological significance. 1 Publication
VAR_074828
Natural varianti564 – 5641L → P in LQT2.
VAR_008920
Natural varianti565 – 5651A → T in LQT2; unknown pathological significance. 1 Publication
VAR_074829
Natural varianti566 – 5661C → S in LQT2; unknown pathological significance. 1 Publication
VAR_074830
Natural varianti568 – 5681W → R in LQT2; unknown pathological significance. 1 Publication
VAR_074831
Natural varianti569 – 5691Y → H in LQT2. 1 Publication
VAR_008921
Natural varianti571 – 5711I → L in LQT2. 1 Publication
VAR_068265
Natural varianti571 – 5711I → V in LQT2; unknown pathological significance. 1 Publication
VAR_074832
Natural varianti572 – 5721G → C in LQT2. 1 Publication
VAR_008923
Natural varianti572 – 5721G → D in LQT2. 2 Publications
VAR_074833
Natural varianti572 – 5721G → R in LQT2; severe form. 1 Publication
VAR_008922
Natural varianti572 – 5721G → S in LQT2. 2 Publications
VAR_068266
Natural varianti572 – 5721G → V in LQT2; unknown pathological significance. 1 Publication
VAR_074834
Natural varianti582 – 5821R → C in LQT2. 3 Publications
VAR_008581
Natural varianti582 – 5821R → L in LQT2; unknown pathological significance. 1 Publication
VAR_074835
Natural varianti584 – 5841G → R in LQT2; unknown pathological significance. 1 Publication
VAR_074836
Natural varianti584 – 5841G → S in LQT2. 3 Publications
VAR_008924
Natural varianti585 – 5851W → C in LQT2; unknown pathological significance. 1 Publication
VAR_009914
Natural varianti588 – 5881N → D in LQT2. 2 Publications
VAR_008925
Natural varianti593 – 5931I → K in LQT2; unknown pathological significance. 1 Publication
VAR_074837
Natural varianti593 – 5931I → R in LQT2. 1 Publication
Corresponds to variant rs28928904 [ dbSNP | Ensembl ].
VAR_008582
Natural varianti593 – 5931I → T in LQT2.
VAR_009915
Natural varianti594 – 5941G → D in LQT2; unknown pathological significance. 1 Publication
VAR_074838
Natural varianti596 – 5961P → H in LQT2; unknown pathological significance. 1 Publication
VAR_074839
Natural varianti596 – 5961P → L in LQT2; unknown pathological significance. 1 Publication
VAR_074840
Natural varianti596 – 5961P → R in LQT2. 1 Publication
VAR_068267
Natural varianti597 – 5971Y → C in LQT2; unknown pathological significance. 1 Publication
VAR_074841
Natural varianti599 – 5991S → R in LQT2; unknown pathological significance. 1 Publication
VAR_074842
Natural varianti601 – 6011G → C in LQT2; unknown pathological significance. 1 Publication
VAR_074843
Natural varianti601 – 6011G → S in LQT2. 3 Publications
VAR_008926
Natural varianti604 – 6041G → S in LQT2. 3 Publications
VAR_008927
Natural varianti605 – 6051P → L in LQT2; unknown pathological significance. 1 Publication
VAR_074844
Natural varianti605 – 6051P → S in LQT2; unknown pathological significance. 1 Publication
VAR_074845
Natural varianti609 – 6091D → G in LQT2; unknown pathological significance. 1 Publication
VAR_074846
Natural varianti609 – 6091D → H in LQT2; unknown pathological significance. 1 Publication
VAR_074847
Natural varianti609 – 6091D → N in LQT2.
VAR_009916
Natural varianti611 – 6111Y → H in LQT2. 1 Publication
VAR_008928
Natural varianti612 – 6121V → L in LQT2. 1 Publication
VAR_008929
Natural varianti613 – 6131T → M in LQT2. 4 Publications
VAR_008930
Natural varianti614 – 6141A → V in LQT2. 5 Publications
VAR_008931
Natural varianti615 – 6151L → F in LQT2; unknown pathological significance. 1 Publication
VAR_074848
Natural varianti615 – 6151L → V in LQT2.
VAR_014375
Natural varianti616 – 6161Y → C in LQT2; unknown pathological significance. 1 Publication
VAR_074849
Natural varianti621 – 6211S → R in LQT2; unknown pathological significance. 1 Publication
VAR_074850
Natural varianti622 – 6221L → F in LQT2. 1 Publication
VAR_068268
Natural varianti623 – 6231T → I in LQT2. 1 Publication
VAR_068269
Natural varianti626 – 6261G → A in LQT2; unknown pathological significance. 1 Publication
VAR_074851
Natural varianti626 – 6261G → D in LQT2; unknown pathological significance. 1 Publication
VAR_074852
Natural varianti626 – 6261G → S in LQT2.
VAR_014376
Natural varianti627 – 6271F → L in LQT2.
VAR_014377
Natural varianti628 – 6281G → S in LQT2. 3 Publications
VAR_008583
Natural varianti628 – 6281G → V in LQT2. 1 Publication
VAR_068270
Natural varianti629 – 6291N → D in LQT2. 1 Publication
VAR_008932
Natural varianti629 – 6291N → I in LQT2; unknown pathological significance. 1 Publication
VAR_074853
Natural varianti629 – 6291N → K in LQT2. 1 Publication
VAR_008933
Natural varianti629 – 6291N → S in LQT2. 2 Publications
VAR_009179
Natural varianti630 – 6301V → A in LQT2. 2 Publications
VAR_008935
Natural varianti630 – 6301V → L in LQT2. 1 Publication
VAR_008934
Natural varianti632 – 6321P → S in LQT2.
VAR_014378
Natural varianti633 – 6331N → S in LQT2. 2 Publications
VAR_008936
Natural varianti634 – 6341T → I in LQT2; unknown pathological significance. 1 Publication
VAR_074854
Natural varianti635 – 6351N → D in LQT2; unknown pathological significance. 1 Publication
VAR_074855
Natural varianti635 – 6351N → I in LQT2. 1 Publication
VAR_068271
Natural varianti635 – 6351N → K in LQT2; unknown pathological significance. 1 Publication
VAR_074856
Natural varianti637 – 6371E → D in LQT2. 2 Publications
VAR_074857
Natural varianti637 – 6371E → K in LQT2. 1 Publication
VAR_014379
Natural varianti638 – 6381K → E in LQT2.
VAR_014380
Natural varianti638 – 6381K → N in LQT2; unknown pathological significance. 1 Publication
VAR_074858
Natural varianti638 – 6381Missing in LQT2; unknown pathological significance. 1 Publication
VAR_014381
Natural varianti640 – 6401F → L in LQT2. 1 Publication
VAR_008937
Natural varianti640 – 6401F → V in LQT2. 1 Publication
VAR_068272
Natural varianti641 – 6411S → F in LQT2. 1 Publication
VAR_068273
Natural varianti644 – 6441V → F in LQT2. 2 Publications
VAR_074859
Natural varianti644 – 6441V → L in LQT2; unknown pathological significance. 1 Publication
VAR_074860
Natural varianti645 – 6451M → I in LQT2; unknown pathological significance. 1 Publication
VAR_074861
Natural varianti645 – 6451M → L in LQT2.
VAR_014382
Natural varianti648 – 6481G → S in LQT2; unknown pathological significance. 1 Publication
VAR_074862
Natural varianti656 – 6561F → C in LQT2; unknown pathological significance. 1 Publication
VAR_074863
Natural varianti657 – 6571G → R in LQT2; unknown pathological significance. 1 Publication
VAR_074864
Natural varianti660 – 6601S → L in LQT2. 2 Publications
VAR_074865
Natural varianti662 – 6621I → T in LQT2; unknown pathological significance. 1 Publication
VAR_074866
Natural varianti671 – 6755Missing in LQT2. 1 Publication
VAR_068274
Natural varianti678 – 6781L → P in LQT2; unknown pathological significance. 1 Publication
VAR_074867
Natural varianti687 – 6871H → Y in LQT2; unknown pathological significance. 1 Publication
VAR_074868
Natural varianti693 – 6931L → P in LQT2; unknown pathological significance. 1 Publication
VAR_074869
Natural varianti696 – 6961R → C in LQT2. 1 Publication
VAR_036674
Natural varianti696 – 6961R → P in LQT2; unknown pathological significance. 1 Publication
VAR_074870
Natural varianti711 – 7111I → V in LQT2; unknown pathological significance. 1 Publication
VAR_074871
Natural varianti721 – 7211P → L in LQT2. 1 Publication
VAR_068275
Natural varianti728 – 7281I → F in LQT2; unknown pathological significance. 1 Publication
VAR_074872
Natural varianti744 – 7441R → P in LQT2; impairs channel function; exhibits reduced activating currents compared to wild-type; cell surface trafficking is not impaired; does not exert dominant-negative effects on wild-type channel; the half-maximal activation voltage is not significantly affected by the mutation. 1 Publication