Paralogue Annotation for KCNH2 residue 30

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 30
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 30

No paralogue variants have been mapped to residue 30 for KCNH2.



KCNH2I---IR----KFEGQSRK-----------F>I<IANA-RVEN-CAVI-YCNDGFCELCGYSRA57
KCNH1I---VR----RS--NDTN-----------F>V<LGNA-QIVD-WPIV-YSNDGFCKLSGYHRA58
KCNH3I---AT----RFDGTHSN-----------F>V<LGNA-QVAGLFPVV-YCSDGFCDLTGFSRA58
KCNH4I---AT----RFDGTHSN-----------F>L<LANA-QGTRGFPIV-YCSDGFCELTGYGRT58
KCNH5I---VR----RS--SESS-----------F>L<LGNA-QIVD-WPVV-YSNDGFCKLSGYHRA56
KCNH6I---IR----KFEGQSRK-----------F>L<IANA-QMEN-CAII-YCNDGFCELFGYSRV57
KCNH7I---IR----KFEGQNKK-----------F>I<IANA-RVQN-CAII-YCNDGFCEMTGFSRP57
KCNH8I---AT----RFDGTHSN-----------F>I<LANA-QVAKGFPIV-YCSDGFCELAGFART58
CNGA1PNVIVP----DIEKE------------I-->-<-------------R-RMEN-----------36
CNGA2---SSP----AN------------------>-<----------------NHNHHA------PP22
CNGA3---SHP----SRTH-------------L-->-<-------------KVKTSD-----------22
CNGA4------------------------------>-<------------------------------
CNGB1L---TSTISLRAQGAEISEMNSPSRRVLTW>L<MKGVEKVIP-QPVH-SITE-----------123
CNGB3------------------------------>-<------------------------------
HCN1-----------GKPNS-------------->-<------------------------------9
HCN2-----G----GGRPGE-------------->-<------------------------------12
HCN3-----------QRPAA-------------->-<------------------------------9
HCN4-----A----WIMDEE-------------->-<-----------------EDAEEEG-AGGRQ41
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I30Tc.89T>C Inherited ArrhythmiaLQTSrs199472832SIFT: deleterious
Polyphen: benign
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