Paralogue Annotation for KCNH2 residue 981

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 981
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 981

No paralogue variants have been mapped to residue 981 for KCNH2.



KCNH2---------------------------EKS>S<DTCNPLSG-AFSGVSNIFS-----------999
KCNH1--------------------------ECLG>P<KGGGGDCAK----RKSWAR-----------839
KCNH3--------------------------LRLP>P<MPWNVPPDLSPRVVDGIED-----------830
KCNH4--------------------------LLIP>P<LGTFGPPDLSPRIVDGIED-----------833
KCNH5--------------------------ADQK>C<LKVNSPIRMKNGNGKGWLR-----------813
KCNH6--------------------------LEQL>Q<AQMNRLESRVSSDLSRILQ-----------849
KCNH7--------------------------IDKR>S<HSCKDITDMRSWERENAHP-----------1002
KCNH8--------------------------LQLS>T<LNNAGPPDLSPRIVDGIED-----------819
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<----------E-------------------563
CNGB1------------------------------>-<--------------A---------------1180
CNGB3------------------------------>-<--------------N---------------737
HCN1----------SPCSYTTAVCSPPVQSPLAA>R<TFHYASPTASQLSLMQ--------------731
HCN2---------RPPPGPAPAAASPG------->-<----PPPPASP-------------------780
HCN3---------RSAWRSAGSPASPL------->-<----VPVRAGPWASTS--------------669
HCN4LLTPLQPGARSPQAAQPSPAPPGARGGLGL>P<EHFLPPPPSSRSPSSSPGQLGQPPGELSLG985
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S981Gc.2941A>G Putative Benignrs76649554SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Unknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510