Paralogue Annotation for KCNH2 residue 58

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 58
Reference Amino Acid: E - Glutamate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 58

No paralogue variants have been mapped to residue 58 for KCNH2.



KCNH2IANA-RVEN-CAVI-YCNDGFCELCGYSRA>E<VMQRPCTCDFLHGPRTQRRAAAQ-IAQ---84
KCNH1LGNA-QIVD-WPIV-YSNDGFCKLSGYHRA>E<VMQKSSTCSFMYGELTDKDTIEK-VRQ---85
KCNH3LGNA-QVAGLFPVV-YCSDGFCDLTGFSRA>E<VMQRGCACSFLYGPDTSELVRQQ-IRK---85
KCNH4LANA-QGTRGFPIV-YCSDGFCELTGYGRT>E<VMQKTCSCRFLYGPETSEPALQR-LHK---85
KCNH5LGNA-QIVD-WPVV-YSNDGFCKLSGYHRA>D<VMQKSSTCSFMYGELTDKKTIEK-VRQ---83
KCNH6IANA-QMEN-CAII-YCNDGFCELFGYSRV>E<VMQQPCTCDFLTGPNTPSSAVSR-LAQ---84
KCNH7IANA-RVQN-CAII-YCNDGFCEMTGFSRP>D<VMQKPCTCDFLHGPETKRHDIAQ-IAQ---84
KCNH8LANA-QVAKGFPIV-YCSDGFCELAGFART>E<VMQKSCSCKFLFGVETNEQLMLQ-IEK---85
CNGA1-------------R-RMEN----------->-<----------------------G-ACS---40
CNGA2----------------NHNHHA------PP>A<-----------IKANGK-DDHRT-SSR---37
CNGA3-------------KVKTSD----------->-<-----------RDLNRA-EN--G-LSR---34
CNGA4------------------------------>-<------------------------------
CNGB1MKGVEKVIP-QPVH-SITE----------->-<----DPAQILGHGSTGDTGCTDE-PNE---145
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4-----------------EDAEEEG-AGGRQ>D<PSRRSIRLRPLPSPSPSAAAGGTESRSSAL72
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E58Ac.173A>C Inherited ArrhythmiaLQTSrs199472847SIFT: deleterious
Polyphen: benign
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.E58Dc.174G>C Inherited ArrhythmiaLQTSrs199473492SIFT: tolerated
Polyphen: benign
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.E58Gc.173A>G Inherited ArrhythmiaLQTSrs199472847SIFT: deleterious
Polyphen: benign
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.E58Kc.172G>A Inherited ArrhythmiaLQTSrs199473413SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472
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