Paralogue Annotation for KCNH2 residue 1135

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1135
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1135

No paralogue variants have been mapped to residue 1135 for KCNH2.



KCNH2-----------------EG--------PTR>R<LSLPGQL---GALTSQP-LHRHGSDPG---1158
KCNH1------------------------------>-<---SQSP---QELFEISRPQSPESERDIFG987
KCNH3SEPPASGDLCSEPSTPAS-------PPPSE>E<GAR-TGP---AEPVSQAEATSTGEPPPGSG1049
KCNH4PYPSEPDPLG---------------PSPVP>E<ASPPTPS---LLRHSFQSRSDTF-------1016
KCNH5------------ASSPKSQM------PLQV>P<--PQIPC---QDIFSVSRPESPESDKDEIH987
KCNH6---------------------------P-C>F<SSLPEHL---GSVPKQLDFQRHGSDPGFAG990
KCNH7QDSDLSLELHLRQRKTYVH--------PIR>H<PSLPDSS---LSTVGIVGLHRHVSDPGLPG1195
KCNH8PLQSISATLSSSVCSSSETSLHLVLPSRSE>E<GSFSQGT---VSSFSLENLPGSWNQEGMAS1079
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------------------------------>-<-MSPGPEPGEQILSVKMPEEREE-KAE---1251
CNGB3------------------------------>-<-MAPSAEGGEEVLTIEVKEKAKQ-------809
HCN1--------------PP-------------->A<AALPRES---SSVLNTD-P-DAEKP-RFAS888
HCN2--------------RR-------------->D<SASPGAA---GG---LD-PQDSARS-RLSS887
HCN3--------------VP-------------->E<PATP------------------RGL-QLSA772
HCN4---------------P-------------->L<TAGPQRE---PG---AR-P-EPVRS-KLPS1201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1135Hc.3404G>A Inherited ArrhythmiaSQTSrs199473547SIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaSQTS A novel KCNH2 mutation as a modifier for short QT interval. Int J Cardiol. 2009 137(1):83-5. 18692916
Inherited ArrhythmiaSQTS Role of the R1135H KCNH2 mutation in Brugada syndrome. Int J Cardiol. 2010 144(1):149-51. 19174314