Paralogue Annotation for KCNH2 residue 1045

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1045
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1045

No paralogue variants have been mapped to residue 1045 for KCNH2.



KCNH2SLLN----IPL-SSPGRRPRGDV-ESRLDA>L<QRQLNRLETRLSADMATVLQ----------1065
KCNH1ESME----TLP-E------RTKA-S----->G<EATLKKTDSCDSGITKSDLR----------890
KCNH3CSSSPSPGPES-G----LLTVPH-GPSEAR>N<TDTLDKLRQAVTELSEQVLQ----------894
KCNH4RSQA----PPT-GTRP-SPELAS-EAEEVK>-<-EKVCRLNQEISRLNQEVSQ----------896
KCNH5ESMG----LLS-EDPKSSDSENS-V----->T<KNPLRKTDSCDSGITKSDLR----------874
KCNH6DLAL----VPI-ASETTSPGPRL-P----->-<QGFLPPAQTPSYGDLDDCSP----------909
KCNH7--------------ESDLTYGEV-EQRLDL>L<QEQLNRLESQMTTDIQTILQ----------1058
KCNH8RISP-----PLGDPEIGAAVLFI-KAEETK>-<-QQINKLNSEVTTLTQEVSQ----------883
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1--G------SP-PSSPPPAS---------->-<------------------------------1204
CNGB3A-S------PI-AVEEEPHS---------->-<------------------------------769
HCN1S-PQPQTPG---S--STPKNEVH-KSTQAL>H<NTNLTREVRPLSASQPSLPHEVSTLISRPH805
HCN2S--------------PYGGLPAAPLAGPAL>P<ARRLSRASRPLSASQPSLPHGAPGPAASTR839
HCN3SLLG--PP---------P----------GG>G<GRRLGPRGRPLSASQPSLPQRATGDGSPGR731
HCN4SLLL--PPASS-P--PPPQVPQR-RGTPPL>T<PGRLTQDLKLISASQPALPQDGAQTLRRAS1105
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1045Fc.3133C>T Inherited ArrhythmiaLQTSrs199473025SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS [DNA-based diagnostics of long QT syndrome]. Tidsskr Nor Laegeforen. 2005 125(20):2783-6. 16244680
Inherited ArrhythmiaLQTS Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases. J Electrocardiol. 2012 45(3):237-43. 22402334