Paralogue Annotation for KCNH2 residue 69

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 69
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 69

No paralogue variants have been mapped to residue 69 for KCNH2.



KCNH2AVI-YCNDGFCELCGYSRAEVMQRPCTCDF>L<HGPRTQRRAAAQ-IAQ--------------84
KCNH1PIV-YSNDGFCKLSGYHRAEVMQKSSTCSF>M<YGELTDKDTIEK-VRQ--------------85
KCNH3PVV-YCSDGFCDLTGFSRAEVMQRGCACSF>L<YGPDTSELVRQQ-IRK--------------85
KCNH4PIV-YCSDGFCELTGYGRTEVMQKTCSCRF>L<YGPETSEPALQR-LHK--------------85
KCNH5PVV-YSNDGFCKLSGYHRADVMQKSSTCSF>M<YGELTDKKTIEK-VRQ--------------83
KCNH6AII-YCNDGFCELFGYSRVEVMQQPCTCDF>L<TGPNTPSSAVSR-LAQ--------------84
KCNH7AII-YCNDGFCEMTGFSRPDVMQKPCTCDF>L<HGPETKRHDIAQ-IAQ--------------84
KCNH8PIV-YCSDGFCELAGFARTEVMQKSCSCKF>L<FGVETNEQLMLQ-IEK--------------85
CNGA1--R-RMEN---------------------->-<-----------G-ACS--------------40
CNGA2-----NHNHHA------PPA---------->-<IKANGK-DDHRT-SSR--------------37
CNGA3--KVKTSD---------------------->-<RDLNRA-EN--G-LSR--------------34
CNGA4------------------------------>-<------------------------------
CNGB1PVH-SITE----------------DPAQIL>G<HGSTGDTGCTDE-PNE--------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------EDAEEEG-AGGRQDPSRRSIRLRP>L<PSPSPSAAAGGTESRSSALGAADSEGPARG83
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L69Pc.206T>C Inherited ArrhythmiaLQTSrs199473665SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833
p.L69Qc.206T>A 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