Paralogue Annotation for KCNH2 residue 978

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 978
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 978

No paralogue variants have been mapped to residue 978 for KCNH2.



KCNH2------------------------------>E<KSSDTCNPLSG-AFSGVSNIFS--------999
KCNH1-----------------------------E>C<LGPKGGGGDCAK----RKSWAR--------839
KCNH3-----------------------------L>R<LPPMPWNVPPDLSPRVVDGIED--------830
KCNH4-----------------------------L>L<IPPLGTFGPPDLSPRIVDGIED--------833
KCNH5-----------------------------A>D<QKCLKVNSPIRMKNGNGKGWLR--------813
KCNH6-----------------------------L>E<QLQAQMNRLESRVSSDLSRILQ--------849
KCNH7-----------------------------I>D<KRSHSCKDITDMRSWERENAHP--------1002
KCNH8-----------------------------L>Q<LSTLNNAGPPDLSPRIVDGIED--------819
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<-------------E----------------563
CNGB1------------------------------>-<-----------------A------------1180
CNGB3------------------------------>-<-----------------N------------737
HCN1-------------SPCSYTTAVCSPPVQSP>L<AARTFHYASPTASQLSLMQ-----------731
HCN2------------RPPPGPAPAAASPG---->-<-------PPPPASP----------------780
HCN3------------RSAWRSAGSPASPL---->-<-------VPVRAGPWASTS-----------669
HCN4DSPLLTPLQPGARSPQAAQPSPAPPGARGG>L<GLPEHFLPPPPSSRSPSSSPGQLGQPPGEL982
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E978Kc.2932G>A Putative Benignrs141117135SIFT: tolerated
Polyphen: possibly damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300