Paralogue Annotation for KCNH2 residue 54

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 54
Reference Amino Acid: Y - Tyrosine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 54

No paralogue variants have been mapped to residue 54 for KCNH2.



KCNH2--FIIANA-RVEN-CAVI-YCNDGFCELCG>Y<SRAEVMQRPCTCDFLHGPRTQRRAAAQ-IA83
KCNH1--FVLGNA-QIVD-WPIV-YSNDGFCKLSG>Y<HRAEVMQKSSTCSFMYGELTDKDTIEK-VR84
KCNH3--FVLGNA-QVAGLFPVV-YCSDGFCDLTG>F<SRAEVMQRGCACSFLYGPDTSELVRQQ-IR84
KCNH4--FLLANA-QGTRGFPIV-YCSDGFCELTG>Y<GRTEVMQKTCSCRFLYGPETSEPALQR-LH84
KCNH5--FLLGNA-QIVD-WPVV-YSNDGFCKLSG>Y<HRADVMQKSSTCSFMYGELTDKKTIEK-VR82
KCNH6--FLIANA-QMEN-CAII-YCNDGFCELFG>Y<SRVEVMQQPCTCDFLTGPNTPSSAVSR-LA83
KCNH7--FIIANA-RVQN-CAII-YCNDGFCEMTG>F<SRPDVMQKPCTCDFLHGPETKRHDIAQ-IA83
KCNH8--FILANA-QVAKGFPIV-YCSDGFCELAG>F<ARTEVMQKSCSCKFLFGVETNEQLMLQ-IE84
CNGA1I----------------R-RMEN------->-<--------------------------G-AC39
CNGA2--------------------NHNHHA---->-<-PPA-----------IKANGK-DDHRT-SS36
CNGA3L----------------KVKTSD------->-<---------------RDLNRA-EN--G-LS33
CNGA4------------------------------>-<------------------------------
CNGB1LTWLMKGVEKVIP-QPVH-SITE------->-<--------DPAQILGHGSTGDTGCTDE-PN144
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4---------------------EDAEEEG-A>G<GRQDPSRRSIRLRPLPSPSPSAAAGGTESR68
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y54Hc.160T>C Inherited ArrhythmiaLQTSrs199472843SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
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