Paralogue Annotation for KCNH2 residue 558

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 558
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 558

No paralogue variants have been mapped to residue 558 for KCNH2.



KCNH2RVARKLDRY-----SEYGAAV-LFLLMCTF>A<LIAHWLACIWYAIGNMEQPHMDSR----IG584
KCNH1RVARKLDHY-----IEYGAAV-LVLLVCVF>G<LAAHWMACIWYSIGDYEIFDEDTKTIRNNS417
KCNH3RLLPRLDRY-----SQYSAVV-LTLLMAVF>A<LLAHWVACVWFYIGQREIESSESELPE-IG397
KCNH4RLLQKLERY-----SQCSAVV-LTLLMSVF>A<LLAHWMACIWYVIGRREMEANDPLLWD-IG399
KCNH5RVARKLDHY-----LEYGAAV-LVLLVCVF>G<LVAHWLACIWYSIGDYEVIDEVTNTIQIDS387
KCNH6RVARKLDRY-----SEYGAAV-LFLLMCTF>A<LIAHWLACIWYAIGNVERPYLEHK----IG435
KCNH7RVARKLDRY-----SEYGAAV-LMLLMCIF>A<LIAHWLACIWYAIGNVERPYLTDK----IG586
KCNH8RLLQKLDRY-----SQHSTIV-LTLLMSMF>A<LLAHWMACIWYVIGKMEREDNSLLKWE-VG393
CNGA1EFFQRTETR-----TNYPNIFRISNLVMYI>V<IIIHWNACVFYSISKAIGFGND-------T331
CNGA2EFFDRTETR-----TNYPNIFRISNLVLYI>L<VIIHWNACIYYAISKSIGFGVD-------T306
CNGA3EFFDRTETR-----TNYPNMFRIGNLVLYI>L<IIIHWNACIYFAISKFIGFGTD-------S334
CNGA4EAFDRTETR-----TAYPNAFRIAKLMLYI>F<VVIHWNSCLYFALSRYLGFGRD-------A200
CNGB1EFNSRLESI-----LSKAYVYRVIRTTAYL>L<YSLHLNSCLYYWASAYQGLGST-------H822
CNGB3EFNHHLESI-----MDKAYIYRVIRTTGYL>L<FILHINACVYYWASNYEGIGTT-------R384
HCN1RYIHQWEEIFHMTYDLASAVVRIFNLIGMM>L<LLCHWDGCLQFLVPLLQDFPPD-------C329
HCN2RYIHQWEEIFHMTYDLASAVMRICNLISMM>L<LLCHWDGCLQFLVPMLQDFPRN-------C398
HCN3RYIHQWEEIFHMTYDLASAVVRIFNLIGMM>L<LLCHWDGCLQFLVPMLQDFPPD-------C282
HCN4RYIHQWEEIFHMTYDLASAVVRIVNLIGMM>L<LLCHWDGCLQFLVPMLQDFPDD-------C449
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A558Ec.1673C>A Inherited ArrhythmiaLQTSSIFT: 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
p.A558Pc.1672G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. Hum Mutat. 1999 13(4):301-10. 10220144
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
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