Paralogue Annotation for KCNH2 residue 982

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 982
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 982

No paralogue variants have been mapped to residue 982 for KCNH2.



KCNH2--------------------------EKSS>D<TCNPLSG-AFSGVSNIFS------------999
KCNH1-------------------------ECLGP>K<GGGGDCAK----RKSWAR------------839
KCNH3-------------------------LRLPP>M<PWNVPPDLSPRVVDGIED------------830
KCNH4-------------------------LLIPP>L<GTFGPPDLSPRIVDGIED------------833
KCNH5-------------------------ADQKC>L<KVNSPIRMKNGNGKGWLR------------813
KCNH6-------------------------LEQLQ>A<QMNRLESRVSSDLSRILQ------------849
KCNH7-------------------------IDKRS>H<SCKDITDMRSWERENAHP------------1002
KCNH8-------------------------LQLST>L<NNAGPPDLSPRIVDGIED------------819
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<---------E--------------------563
CNGB1------------------------------>-<-------------A----------------1180
CNGB3------------------------------>-<-------------N----------------737
HCN1---------SPCSYTTAVCSPPVQSPLAAR>T<FHYASPTASQLSLMQ---------------731
HCN2--------RPPPGPAPAAASPG-------->-<---PPPPASP--------------------780
HCN3--------RSAWRSAGSPASPL-------->-<---VPVRAGPWASTS---------------669
HCN4LTPLQPGARSPQAAQPSPAPPGARGGLGLP>E<HFLPPPPSSRSPSSSPGQLGQPPGELSLGL986
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D982Nc.2944G>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775