Paralogue Annotation for KCNH2 residue 1035

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1035
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1035

No paralogue variants have been mapped to residue 1035 for KCNH2.



KCNH2ELPRCPAPTP-SLLN----IPL-SSPGRRP>R<GDV-ESRLDALQRQLNRLETRLSADMATVL1064
KCNH1SEDWNKVSKA-ESME----TLP-E------>R<TKA-S-----GEATLKKTDSCDSGITKSDL889
KCNH3FRVGQSGPE--CSSSPSPGPES-G----LL>T<VPH-GPSEARNTDTLDKLRQAVTELSEQVL893
KCNH4FSRRPELPRP-RSQA----PPT-GTRP-SP>E<LAS-EAEEVK--EKVCRLNQEISRLNQEVS895
KCNH5KEDWNNVTKA-ESMG----LLS-EDPKSSD>S<ENS-V-----TKNPLRKTDSCDSGITKSDL873
KCNH6SYILEAPASN-DLAL----VPI-ASETTSP>G<PRL-P------QGFLPPAQTPSYGDLDDCS908
KCNH7RAAWGISET----------------ESDLT>Y<GEV-EQRLDLLQEQLNRLESQMTTDIQTIL1057
KCNH8FGSERIRSEP-RISP-----PLGDPEIGAA>V<LFI-KAEETK--QQINKLNSEVTTLTQEVS882
CNGA1-------T---------------------->-<------------------------------690
CNGA2-------P---------------------->-<------------------------------664
CNGA3-------Q---------------------->-<------------------------------694
CNGA4QEGPPGPE---------------------->-<------------------------------575
CNGB1PEPP---------G------SP-PSSPPPA>S<------------------------------1204
CNGB3EEKPLDRPECTA-S------PI-AVEEEPH>S<------------------------------769
HCN1SQPPQTQPQQPS-PQPQTPG---S--STPK>N<EVH-KSTQALHNTNLTREVRPLSASQPSLP794
HCN2PRAPR-----TS--------------PYGG>L<PAAPLAGPALPARRLSRASRPLSASQPSLP828
HCN3SLSRAGRSQ-VSLLG--PP---------P->-<--------GGGGRRLGPRGRPLSASQPSLP720
HCN4APPRASGSH-GSLLL--PPASS-P--PPPQ>V<PQR-RGTPPLTPGRLTQDLKLISASQPALP1094
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1035Wc.3103C>T Putative BenignSIFT: tolerated
Polyphen: probably damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
p.R1035Qc.3104G>A Putative BenignSIFT:
Polyphen: