Paralogue Annotation for KCNH2 residue 963

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 963
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 963

No paralogue variants have been mapped to residue 963 for KCNH2.



KCNH2-PESSEDEGP---GRSSSPLRLVPFSSP-R>P<PGEPPGGEPLMEDC----------------977
KCNH1-NHSLVKASV---VTVRESPATPVSFQA-A>S<TSGVPDHAKLQAPGS---------------819
KCNH3PRRTAPRPRL---GGRGRPGRAGALKAE-A>G<PSAPPRALEG--------------------806
KCNH4PFSALVSSPS---LSPSLSPALAGQGHS-A>S<PHGPPRCSAAWKPPQ---------------809
KCNH5-GTSVVTVSQ---ITPIQTSLAYVKTSE-S>L<KQNNRDAMELKPNGG---------------789
KCNH6-PLSISDASG---LWPELLQEMPPRHSP-Q>S<PQEDPDCWPLKLGSR---------------825
KCNH7-ISSIDDEQK---PLFSGIVDSSPGIGK-A>S<GLDFEETVPTSGRMH---------------978
KCNH8QLASGT-VPF---HSPIRVSRSNSPKTK-Q>E<IDPPNHNKRKEKNLK---------------795
CNGA1---AESGPID---S---------------->-<------------------------------689
CNGA2---PELAAAD---E---------------->-<------------------------------663
CNGA3--DATKTEDK---Q---------------->-<------------------------------693
CNGA4---PEEGTSK---DE--------------->-<------------------------------562
CNGB1--EGSAAPDQ-----------HTHPKEA-->-<------------------------------1179
CNGB3--NEDKQKEN-----------EDKGKE--->-<------------------------------736
HCN1--ATSLSHSNL-H--------S-------->-<------------------------------680
HCN2--CPQVARPLVGP----------------->-<------------------------------749
HCN3--NVAIALTHQRG--------P-------->-<------------------------------630
HCN4--SVAIALTHHPRLPAAIFRPPPGSGLGNL>G<AGQTPRHLKRLQSLIPSALGSASPASSPSQ848
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P963Tc.2887C>A Inherited ArrhythmiaLQTSrs199473014SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429