Paralogue Annotation for KCNH2 residue 971

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 971
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 971

No paralogue variants have been mapped to residue 971 for KCNH2.



KCNH2GP---GRSSSPLRLVPFSSP-RPPGEPPGG>E<PLMEDC------------------------977
KCNH1SV---VTVRESPATPVSFQA-ASTSGVPDH>A<KLQAPGS-----------------------819
KCNH3RL---GGRGRPGRAGALKAE-AGPSAPPRA>L<EG----------------------------806
KCNH4PS---LSPSLSPALAGQGHS-ASPHGPPRC>S<AAWKPPQ-----------------------809
KCNH5SQ---ITPIQTSLAYVKTSE-SLKQNNRDA>M<ELKPNGG-----------------------789
KCNH6SG---LWPELLQEMPPRHSP-QSPQEDPDC>W<PLKLGSR-----------------------825
KCNH7QK---PLFSGIVDSSPGIGK-ASGLDFEET>V<PTSGRMH-----------------------978
KCNH8PF---HSPIRVSRSNSPKTK-QEIDPPNHN>K<RKEKNLK-----------------------795
CNGA1ID---S------------------------>-<------------------------------689
CNGA2AD---E------------------------>-<------------------------------663
CNGA3DK---Q------------------------>-<------------------------------693
CNGA4SK---DE----------------------->-<------------------------------562
CNGB1DQ-----------HTHPKEA---------->-<------------------------------1179
CNGB3EN-----------EDKGKE----------->-<------------------------------736
HCN1SNL-H--------S---------------->-<------------------------------680
HCN2PLVGP------------------------->-<------------------------------749
HCN3THQRG--------P---------------->-<------------------------------630
HCN4THHPRLPAAIFRPPPGSGLGNLGAGQTPRH>L<KRLQSLIPSALGSASPASSPSQVDTPSSSS856
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E971Kc.2911G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2016 37(18):1456-64. doi: 10.1093/eurheartj/ehv695. 26715165