Paralogue Annotation for KCNH2 residue 954

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 954
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 954

No paralogue variants have been mapped to residue 954 for KCNH2.



KCNH2GPSS-------PESSEDEGP---GRSSSPL>R<LVPFSSP-RPPGEPPGGEPLMEDC------977
KCNH1HASA-------NHSLVKASV---VTVRESP>A<TPVSFQA-ASTSGVPDHAKLQAPGS-----819
KCNH3SSSSAAKLLSPRRTAPRPRL---GGRGRPG>R<AGALKAE-AGPSAPPRALEG----------806
KCNH4LVSLLGEELPPFSALVSSPS---LSPSLSP>A<LAGQGHS-ASPHGPPRCSAAWKPPQ-----809
KCNH5ASIT-------GTSVVTVSQ---ITPIQTS>L<AYVKTSE-SLKQNNRDAMELKPNGG-----789
KCNH6DAAP-------PLSISDASG---LWPELLQ>E<MPPRHSP-QSPQEDPDCWPLKLGSR-----825
KCNH7SSSF-------ISSIDDEQK---PLFSGIV>D<SSPGIGK-ASGLDFEETVPTSGRMH-----978
KCNH8NKAYLGLSLKQLASGT-VPF---HSPIRVS>R<SNSPKTK-QEIDPPNHNKRKEKNLK-----795
CNGA1EGPG---------AESGPID---S------>-<------------------------------689
CNGA2GMNS---------PELAAAD---E------>-<------------------------------663
CNGA3GEVPG-------DATKTEDK---Q------>-<------------------------------693
CNGA4DEGE---------PEEGTSK---DE----->-<------------------------------562
CNGB1DVKGE-------EGSAAPDQ---------->-<HTHPKEA-----------------------1179
CNGB3DKQKE-------NEDKQKEN---------->-<EDKGKE------------------------736
HCN1PPVYT-------ATSLSHSNL-H------->-<S-----------------------------680
HCN2AAMSF-------CPQVARPLVGP------->-<------------------------------749
HCN3AAVTS-------NVAIALTHQRG------->-<P-----------------------------630
HCN4AAATT-------SVAIALTHHPRLPAAIFR>P<PPGSGLGNLGAGQTPRHLKRLQSLIPSALG838
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R954Cc.2860C>T Other Cardiac Phenotypers141401803SIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
Other Cardiac Phenotype Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes. Heart Rhythm. 2008 5(8):1159-67. 18675227