Paralogue Annotation for KCNH2 residue 983

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 983
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 983

No paralogue variants have been mapped to residue 983 for KCNH2.



KCNH2-------------------------EKSSD>T<CNPLSG-AFSGVSNIFS-------------999
KCNH1------------------------ECLGPK>G<GGGDCAK----RKSWAR-------------839
KCNH3------------------------LRLPPM>P<WNVPPDLSPRVVDGIED-------------830
KCNH4------------------------LLIPPL>G<TFGPPDLSPRIVDGIED-------------833
KCNH5------------------------ADQKCL>K<VNSPIRMKNGNGKGWLR-------------813
KCNH6------------------------LEQLQA>Q<MNRLESRVSSDLSRILQ-------------849
KCNH7------------------------IDKRSH>S<CKDITDMRSWERENAHP-------------1002
KCNH8------------------------LQLSTL>N<NAGPPDLSPRIVDGIED-------------819
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<--------E---------------------563
CNGB1------------------------------>-<------------A-----------------1180
CNGB3------------------------------>-<------------N-----------------737
HCN1--------SPCSYTTAVCSPPVQSPLAART>F<HYASPTASQLSLMQ----------------731
HCN2-------RPPPGPAPAAASPG--------->-<--PPPPASP---------------------780
HCN3-------RSAWRSAGSPASPL--------->-<--VPVRAGPWASTS----------------669
HCN4TPLQPGARSPQAAQPSPAPPGARGGLGLPE>H<FLPPPPSSRSPSSSPGQLGQPPGELSLGLA987
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T983Ic.2948C>T Inherited ArrhythmiaLQTSrs149955375SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381