Paralogue Annotation for KCNH2 residue 32

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 32
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 32

No paralogue variants have been mapped to residue 32 for KCNH2.



KCNH2--IR----KFEGQSRK-----------FII>A<NA-RVEN-CAVI-YCNDGFCELCGYSRAEV59
KCNH1--VR----RS--NDTN-----------FVL>G<NA-QIVD-WPIV-YSNDGFCKLSGYHRAEV60
KCNH3--AT----RFDGTHSN-----------FVL>G<NA-QVAGLFPVV-YCSDGFCDLTGFSRAEV60
KCNH4--AT----RFDGTHSN-----------FLL>A<NA-QGTRGFPIV-YCSDGFCELTGYGRTEV60
KCNH5--VR----RS--SESS-----------FLL>G<NA-QIVD-WPVV-YSNDGFCKLSGYHRADV58
KCNH6--IR----KFEGQSRK-----------FLI>A<NA-QMEN-CAII-YCNDGFCELFGYSRVEV59
KCNH7--IR----KFEGQNKK-----------FII>A<NA-RVQN-CAII-YCNDGFCEMTGFSRPDV59
KCNH8--AT----RFDGTHSN-----------FIL>A<NA-QVAKGFPIV-YCSDGFCELAGFARTEV60
CNGA1VIVP----DIEKE------------I---->-<-----------R-RMEN-------------36
CNGA2-SSP----AN-------------------->-<--------------NHNHHA------PPA-23
CNGA3-SHP----SRTH-------------L---->-<-----------KVKTSD-------------22
CNGA4------------------------------>-<------------------------------
CNGB1--TSTISLRAQGAEISEMNSPSRRVLTWLM>K<GVEKVIP-QPVH-SITE-------------123
CNGB3------------------------------>-<------------------------------
HCN1---------GKPNS---------------->-<------------------------------9
HCN2---G----GGRPGE---------------->-<------------------------------12
HCN3---------QRPAA---------------->-<------------------------------9
HCN4---A----WIMDEE---------------->-<---------------EDAEEEG-AGGRQDP43
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A32Tc.94G>A Inherited ArrhythmiaLQTSrs199472834SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
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