Paralogue Annotation for KCNH2 residue 68

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 68
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 68

No paralogue variants have been mapped to residue 68 for KCNH2.



KCNH2CAVI-YCNDGFCELCGYSRAEVMQRPCTCD>F<LHGPRTQRRAAAQ-IAQ-------------84
KCNH1WPIV-YSNDGFCKLSGYHRAEVMQKSSTCS>F<MYGELTDKDTIEK-VRQ-------------85
KCNH3FPVV-YCSDGFCDLTGFSRAEVMQRGCACS>F<LYGPDTSELVRQQ-IRK-------------85
KCNH4FPIV-YCSDGFCELTGYGRTEVMQKTCSCR>F<LYGPETSEPALQR-LHK-------------85
KCNH5WPVV-YSNDGFCKLSGYHRADVMQKSSTCS>F<MYGELTDKKTIEK-VRQ-------------83
KCNH6CAII-YCNDGFCELFGYSRVEVMQQPCTCD>F<LTGPNTPSSAVSR-LAQ-------------84
KCNH7CAII-YCNDGFCEMTGFSRPDVMQKPCTCD>F<LHGPETKRHDIAQ-IAQ-------------84
KCNH8FPIV-YCSDGFCELAGFARTEVMQKSCSCK>F<LFGVETNEQLMLQ-IEK-------------85
CNGA1---R-RMEN--------------------->-<------------G-ACS-------------40
CNGA2------NHNHHA------PPA--------->-<-IKANGK-DDHRT-SSR-------------37
CNGA3---KVKTSD--------------------->-<-RDLNRA-EN--G-LSR-------------34
CNGA4------------------------------>-<------------------------------
CNGB1QPVH-SITE----------------DPAQI>L<GHGSTGDTGCTDE-PNE-------------145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4-------EDAEEEG-AGGRQDPSRRSIRLR>P<LPSPSPSAAAGGTESRSSALGAADSEGPAR82
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F68Lc.202T>C Inherited ArrhythmiaLQTSrs199473417SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
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
p.F68Vc.202T>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661