Paralogue Annotation for KCNH2 residue 735

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 735
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 735

No paralogue variants have been mapped to residue 735 for KCNH2.



KCNH2WSYTNGIDMNAVLKGFPECLQADICLHLNR>S<LLQHCKPFRGATKGCLRALAMKFKTTHAPP765
KCNH1WSMSRGIDTEKVLQICPKDMRADICVHLNR>K<VFKEHPAFRLASDGCLRALAMEFQTVHCAP604
KCNH3WAVNNGIDTTELLQSLPDELRADIAMHLHK>E<VL-QLPLFEAASRGCLRALSLALRPAFCTP605
KCNH4WAVNSGIDANELLRDFPDELRADIAMHLNR>E<IL-QLPLFGAASRGCLRALSLHIKTSFCAP579
KCNH5WSMSKGIDTEKVLSICPKDMRADICVHLNR>K<VFNEHPAFRLASDGCLRALAVEFQTIHCAP573
KCNH6WSYTNGIDMNAVLKGFPECLQADICLHLHR>A<LLQHCPAFSGAGKGCLRALAVKFKTTHAPP617
KCNH7WTYTNGIDMNMVLKGFPECLQADICLHLNQ>T<LLQNCKAFRGASKGCLRALAMKFKTTHAPP768
KCNH8WSVNNGIDSNELLKDFPDELRSDITMHLNK>E<IL-QLSLFECASRGCLRSLSLHIKTSFCAP574
CNGA1WTNKKTVDEKEVLKYLPDKLRAEIAINVHL>D<TLKKVRIFADCEAGLLVELVLKLQPQVYSP502
CNGA2WTNKKTVDEREILKNLPAKLRAEIAINVHL>S<TLKKVRIFHDCEAGLLVELVLKLRPQVFSP477
CNGA3WANKKTVDEKEVLKSLPDKLKAEIAINVHL>D<TLKKVRIFQDCEAGLLVELVLKLRPTVFSP505
CNGA4QINKKMTNEVAILQHLPERLRAEVAVSVHL>S<TLSRVQIFQNCEASLLEELVLKLQPQTYSP371
CNGB1WHSQGMLDESELMVQLPDKMRLDLAIDVNY>N<IVSKVALFQGCDRQMIFDMLKRLRSVVYLP985
CNGB3WDSQRMLDESDLLKTLPTTVQLALAIDVNF>S<IISKVDLFKGCDTQMIYDMLLRLKSVLYLP547
HCN1YQG-KIFDEENILNELNDPLREEIVNFNCR>K<LVATMPLFANADPNFVTAMLSKLRFEVFQP498
HCN2YQG-KMFDEDSILGELNGPLREEIVNFNCR>K<LVASMPLFANADPNFVTAMLTKLKFEVFQP567
HCN3YQG-KMFDEESILGELSEPLREEIINFTCR>G<LVAHMPLFAHADPSFVTAVLTKLRFEVFQP451
HCN4YQG-KMFDEESILGELSEPLREEIINFNCR>K<LVASMPLFANADPNFVTSMLTKLRFEVFQP618
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S735Lc.2204C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810