Paralogue Annotation for KCNH2 residue 41

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 41
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 41

No paralogue variants have been mapped to residue 41 for KCNH2.



KCNH2GQSRK-----------FIIANA-RVEN-CA>V<I-YCNDGFCELCGYSRAEVMQRPCTCDFLH70
KCNH1-NDTN-----------FVLGNA-QIVD-WP>I<V-YSNDGFCKLSGYHRAEVMQKSSTCSFMY71
KCNH3GTHSN-----------FVLGNA-QVAGLFP>V<V-YCSDGFCDLTGFSRAEVMQRGCACSFLY71
KCNH4GTHSN-----------FLLANA-QGTRGFP>I<V-YCSDGFCELTGYGRTEVMQKTCSCRFLY71
KCNH5-SESS-----------FLLGNA-QIVD-WP>V<V-YSNDGFCKLSGYHRADVMQKSSTCSFMY69
KCNH6GQSRK-----------FLIANA-QMEN-CA>I<I-YCNDGFCELFGYSRVEVMQQPCTCDFLT70
KCNH7GQNKK-----------FIIANA-RVQN-CA>I<I-YCNDGFCEMTGFSRPDVMQKPCTCDFLH70
KCNH8GTHSN-----------FILANA-QVAKGFP>I<V-YCSDGFCELAGFARTEVMQKSCSCKFLF71
CNGA1KE------------I--------------->-<R-RMEN------------------------36
CNGA2------------------------------>-<---NHNHHA------PPA-----------I24
CNGA3H-------------L--------------->-<KVKTSD-----------------------R23
CNGA4------------------------------>-<------------------------------
CNGB1GAEISEMNSPSRRVLTWLMKGVEKVIP-QP>V<H-SITE----------------DPAQILGH131
CNGB3------------------------------>-<------------------------------
HCN1PNS--------------------------->-<------------------------------9
HCN2PGE--------------------------->-<------------------------------12
HCN3PAA--------------------------->-<------------------------------9
HCN4DEE--------------------------->-<----EDAEEEG-AGGRQDPSRRSIRLRPLP54
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V41Ac.122T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445
p.V41Fc.121G>T Inherited ArrhythmiaLQTSSIFT: 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
p.V41Gc.122T>G Putative BenignSIFT: deleterious
Polyphen: benign