Paralogue Annotation for KCNH2 residue 1101

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1101
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1101

No paralogue variants have been mapped to residue 1101 for KCNH2.



KCNH2---------GPGPTSTSPLL-----PVSPL>P<-TLTLDSLSQVSQFMACEELPPGAPELPQ-1129
KCNH1---YPIPEQTLQATVLEVRH-----ELKED>I<KALNAKMTNIEKQLSEILRILTSRRS----963
KCNH3--CPRAS-----GEGPCPASTSGLLQPLCV>D<TGASSYCLQPPAGSVLSGTWPHPRPGPPPL971
KCNH4---GHPAGSAWTPDPPCPQL-----RP--->-<-PCLSPCASRPPPSLQDTTLAEVH-CPASV962
KCNH5---YPIPEQALQTTLQEVKH-----ELKED>I<QLLSCRMTALEKQVAEILKILSEKSVPQ--949
KCNH6---------KTLAPSSEQEQ-----PEGLW>P<-PLASPLHPLEVQGLICG------------960
KCNH7---PIIQLMRTSQPEASIKT-----DRSFS>P<SSQCPEFLDLEKSKLKSKESLSSGVHLNTA1135
KCNH8SRESLQTRTSWSAHQPCLHL-----QTGGA>A<YTQAQLCSSNITSDIWSVDPSSVGSSPQRT973
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1--------LGRPEGEEEGPA-----EPEEH>S<VRIC--------------------------1226
CNGB3--------VRR----TVLPR-----GTSRQ>S<LIIS--------------------------787
HCN1------AG----G---RST----------->-<--VP-QRVTLFRQMSSGAIP------PNRG855
HCN2------------S---ST------------>-<PRLG-P-----------------TP-AARA856
HCN3------------G---SE------------>-<R-LP-PSGLL-------AKP------PRTA752
HCN4------------S---GGLG-----PPGRP>Y<GAIPGQHVTLPRKTSSGSLPPPLSLFGARA1172
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1101Lc.3302C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome. Clin Chim Acta. 2011 412(1-2):203-7. 20851114