Paralogue Annotation for KCNH2 residue 35

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 35
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 35

No paralogue variants have been mapped to residue 35 for KCNH2.



KCNH2----KFEGQSRK-----------FIIANA->R<VEN-CAVI-YCNDGFCELCGYSRAEVMQRP63
KCNH1----RS--NDTN-----------FVLGNA->Q<IVD-WPIV-YSNDGFCKLSGYHRAEVMQKS64
KCNH3----RFDGTHSN-----------FVLGNA->Q<VAGLFPVV-YCSDGFCDLTGFSRAEVMQRG64
KCNH4----RFDGTHSN-----------FLLANA->Q<GTRGFPIV-YCSDGFCELTGYGRTEVMQKT64
KCNH5----RS--SESS-----------FLLGNA->Q<IVD-WPVV-YSNDGFCKLSGYHRADVMQKS62
KCNH6----KFEGQSRK-----------FLIANA->Q<MEN-CAII-YCNDGFCELFGYSRVEVMQQP63
KCNH7----KFEGQNKK-----------FIIANA->R<VQN-CAII-YCNDGFCEMTGFSRPDVMQKP63
KCNH8----RFDGTHSN-----------FILANA->Q<VAKGFPIV-YCSDGFCELAGFARTEVMQKS64
CNGA1----DIEKE------------I-------->-<-------R-RMEN-----------------36
CNGA2----AN------------------------>-<----------NHNHHA------PPA-----23
CNGA3----SRTH-------------L-------->-<-------KVKTSD-----------------22
CNGA4------------------------------>-<------------------------------
CNGB1TISLRAQGAEISEMNSPSRRVLTWLMKGVE>K<VIP-QPVH-SITE----------------D124
CNGB3------------------------------>-<------------------------------
HCN1-----GKPNS-------------------->-<------------------------------9
HCN2----GGRPGE-------------------->-<------------------------------12
HCN3-----QRPAA-------------------->-<------------------------------9
HCN4----WIMDEE-------------------->-<-----------EDAEEEG-AGGRQDPSRRS47
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R35Wc.103C>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited 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
Inherited ArrhythmiaLQTS High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. Sci Rep. 2015 5:10009. doi: 10.1038/srep10009. 26066609