Paralogue Annotation for KCNH2 residue 1033

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1033
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1033

No paralogue variants have been mapped to residue 1033 for KCNH2.



KCNH2YQELPRCPAPTP-SLLN----IPL-SSPGR>R<PRGDV-ESRLDALQRQLNRLETRLSADMAT1062
KCNH1-KSEDWNKVSKA-ESME----TLP-E---->-<-RTKA-S-----GEATLKKTDSCDSGITKS887
KCNH3FSFRVGQSGPE--CSSSPSPGPES-G---->L<LTVPH-GPSEARNTDTLDKLRQAVTELSEQ891
KCNH4FRFSRRPELPRP-RSQA----PPT-GTRP->S<PELAS-EAEEVK--EKVCRLNQEISRLNQE893
KCNH5EKKEDWNNVTKA-ESMG----LLS-EDPKS>S<DSENS-V-----TKNPLRKTDSCDSGITKS871
KCNH6HASYILEAPASN-DLAL----VPI-ASETT>S<PGPRL-P------QGFLPPAQTPSYGDLDD906
KCNH7LQRAAWGISET----------------ESD>L<TYGEV-EQRLDLLQEQLNRLESQMTTDIQT1055
KCNH8FDFGSERIRSEP-RISP-----PLGDPEIG>A<AVLFI-KAEETK--QQINKLNSEVTTLTQE880
CNGA1---------T-------------------->-<------------------------------690
CNGA2---------P-------------------->-<------------------------------664
CNGA3---------Q-------------------->-<------------------------------694
CNGA4ASQEGPPGPE-------------------->-<------------------------------575
CNGB1TPPEPP---------G------SP-PSSPP>P<AS----------------------------1204
CNGB3EPEEKPLDRPECTA-S------PI-AVEEE>P<HS----------------------------769
HCN1QQSQPPQTQPQQPS-PQPQTPG---S--ST>P<KNEVH-KSTQALHNTNLTREVRPLSASQPS792
HCN2ASPRAPR-----TS--------------PY>G<GLPAAPLAGPALPARRLSRASRPLSASQPS826
HCN3HASLSRAGRSQ-VSLLG--PP--------->P<----------GGGGRRLGPRGRPLSASQPS718
HCN4PSAPPRASGSH-GSLLL--PPASS-P--PP>P<QVPQR-RGTPPLTPGRLTQDLKLISASQPA1092
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1033Wc.3097C>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort. J Pediatr. 2014 164(3):590-5.e1-3. doi: 10.1016/j.jpeds.2013.11.01 24388587
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