Paralogue Annotation for KCNH2 residue 6

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 6
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 6

No paralogue variants have been mapped to residue 6 for KCNH2.



KCNH2------------------------RR---->G<-HVAPQNTFLDTI---IR----KFEGQSRK28
KCNH1------------------------RR---->G<-LVAPQNTFLENI---VR----RS--NDTN29
KCNH3------------------------MR---->G<-LLAPQNTFLDTI---AT----RFDGTHSN28
KCNH4------------------------MK---->G<-LLAPQNTFLDTI---AT----RFDGTHSN28
KCNH5------------------------KR---->G<-LVAPQNTFLENI---VR----RS--SESS27
KCNH6------------------------RR---->G<-HVAPQNTYLDTI---IR----KFEGQSRK28
KCNH7------------------------RR---->G<-HVAPQNTFLGTI---IR----KFEGQNKK28
KCNH8------------------------MK---->G<-LLAPQNTFLDTI---AT----RFDGTHSN28
CNGA1------------------------SMK--->N<NIINTQQSFVTMPNVIVP----DIEKE---30
CNGA2------------------------K----->-<--TNGVK--------SSP----AN------14
CNGA3------------------------------>-<--INTQY--------SHP----SRTH----15
CNGA4------------------------------>-<------------------------------
CNGB1PNPEEAETESESMPPEESFKEEEVAV---->-<ADPSPQETKEAAL---TSTISLRAQGAEIS93
CNGB3------------------------------>-<------------------------------
HCN1------------------------G----->-<-----------------------GKPNS--9
HCN2------------------------------>-<----------RG-----G----GGRPGE--12
HCN3------------------------E----->-<-----------------------QRPAA--9
HCN4------------------------LPPSMR>K<RLYSLPQQVGAK-----A----WIMDEE--29
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G6Vc.17G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487
Inherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430