Paralogue Annotation for KCNH2 residue 55

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 55
Reference Amino Acid: S - Serine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 55

No paralogue variants have been mapped to residue 55 for KCNH2.



KCNH2-FIIANA-RVEN-CAVI-YCNDGFCELCGY>S<RAEVMQRPCTCDFLHGPRTQRRAAAQ-IAQ84
KCNH1-FVLGNA-QIVD-WPIV-YSNDGFCKLSGY>H<RAEVMQKSSTCSFMYGELTDKDTIEK-VRQ85
KCNH3-FVLGNA-QVAGLFPVV-YCSDGFCDLTGF>S<RAEVMQRGCACSFLYGPDTSELVRQQ-IRK85
KCNH4-FLLANA-QGTRGFPIV-YCSDGFCELTGY>G<RTEVMQKTCSCRFLYGPETSEPALQR-LHK85
KCNH5-FLLGNA-QIVD-WPVV-YSNDGFCKLSGY>H<RADVMQKSSTCSFMYGELTDKKTIEK-VRQ83
KCNH6-FLIANA-QMEN-CAII-YCNDGFCELFGY>S<RVEVMQQPCTCDFLTGPNTPSSAVSR-LAQ84
KCNH7-FIIANA-RVQN-CAII-YCNDGFCEMTGF>S<RPDVMQKPCTCDFLHGPETKRHDIAQ-IAQ84
KCNH8-FILANA-QVAKGFPIV-YCSDGFCELAGF>A<RTEVMQKSCSCKFLFGVETNEQLMLQ-IEK85
CNGA1----------------R-RMEN-------->-<-------------------------G-ACS40
CNGA2-------------------NHNHHA----->-<PPA-----------IKANGK-DDHRT-SSR37
CNGA3----------------KVKTSD-------->-<--------------RDLNRA-EN--G-LSR34
CNGA4------------------------------>-<------------------------------
CNGB1TWLMKGVEKVIP-QPVH-SITE-------->-<-------DPAQILGHGSTGDTGCTDE-PNE145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4--------------------EDAEEEG-AG>G<RQDPSRRSIRLRPLPSPSPSAAAGGTESRS69
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S55Lc.164C>T Inherited ArrhythmiaLQTSrs199472844SIFT: deleterious
Polyphen: benign
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 Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810