Paralogue Annotation for KCNH2 residue 1100

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1100
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1100

No paralogue variants have been mapped to residue 1100 for KCNH2.



KCNH2----------GPGPTSTSPLL-----PVSP>L<P-TLTLDSLSQVSQFMACEELPPGAPELPQ1129
KCNH1----YPIPEQTLQATVLEVRH-----ELKE>D<IKALNAKMTNIEKQLSEILRILTSRRS---963
KCNH3---CPRAS-----GEGPCPASTSGLLQPLC>V<DTGASSYCLQPPAGSVLSGTWPHPRPGPPP970
KCNH4----GHPAGSAWTPDPPCPQL-----RP-->-<--PCLSPCASRPPPSLQDTTLAEVH-CPAS961
KCNH5----YPIPEQALQTTLQEVKH-----ELKE>D<IQLLSCRMTALEKQVAEILKILSEKSVPQ-949
KCNH6----------KTLAPSSEQEQ-----PEGL>W<P-PLASPLHPLEVQGLICG-----------960
KCNH7----PIIQLMRTSQPEASIKT-----DRSF>S<PSSQCPEFLDLEKSKLKSKESLSSGVHLNT1134
KCNH8PSRESLQTRTSWSAHQPCLHL-----QTGG>A<AYTQAQLCSSNITSDIWSVDPSSVGSSPQR972
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1---------LGRPEGEEEGPA-----EPEE>H<SVRIC-------------------------1226
CNGB3---------VRR----TVLPR-----GTSR>Q<SLIIS-------------------------787
HCN1-------AG----G---RST---------->-<---VP-QRVTLFRQMSSGAIP------PNR854
HCN2-------------S---ST----------->-<-PRLG-P-----------------TP-AAR855
HCN3-------------G---SE----------->-<-R-LP-PSGLL-------AKP------PRT751
HCN4-------------S---GGLG-----PPGR>P<YGAIPGQHVTLPRKTSSGSLPPPLSLFGAR1171
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1100Pc.3299T>C Putative BenignSIFT: deleterious
Polyphen: benign