Paralogue Annotation for KCNH2 residue 565

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 565
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 565

No paralogue variants have been mapped to residue 565 for KCNH2.



KCNH2RY-----SEYGAAV-LFLLMCTFALIAHWL>A<CIWYAIGNMEQPHMDSR----IGWLHNLGD591
KCNH1HY-----IEYGAAV-LVLLVCVFGLAAHWM>A<CIWYSIGDYEIFDEDTKTIRNNSWLYQLAM424
KCNH3RY-----SQYSAVV-LTLLMAVFALLAHWV>A<CVWFYIGQREIESSESELPE-IGWLQELAR404
KCNH4RY-----SQCSAVV-LTLLMSVFALLAHWM>A<CIWYVIGRREMEANDPLLWD-IGWLHELGK406
KCNH5HY-----LEYGAAV-LVLLVCVFGLVAHWL>A<CIWYSIGDYEVIDEVTNTIQIDSWLYQLAL394
KCNH6RY-----SEYGAAV-LFLLMCTFALIAHWL>A<CIWYAIGNVERPYLEHK----IGWLDSLGV442
KCNH7RY-----SEYGAAV-LMLLMCIFALIAHWL>A<CIWYAIGNVERPYLTDK----IGWLDSLGQ593
KCNH8RY-----SQHSTIV-LTLLMSMFALLAHWM>A<CIWYVIGKMEREDNSLLKWE-VGWLHELGK400
CNGA1TR-----TNYPNIFRISNLVMYIVIIIHWN>A<CVFYSISKAIGFGND-------TWVYPD--336
CNGA2TR-----TNYPNIFRISNLVLYILVIIHWN>A<CIYYAISKSIGFGVD-------TWVYPN--311
CNGA3TR-----TNYPNMFRIGNLVLYILIIIHWN>A<CIYFAISKFIGFGTD-------SWVYPN--339
CNGA4TR-----TAYPNAFRIAKLMLYIFVVIHWN>S<CLYFALSRYLGFGRD-------AWVYPD--205
CNGB1SI-----LSKAYVYRVIRTTAYLLYSLHLN>S<CLYYWASAYQGLGST-------HWVYD---826
CNGB3SI-----MDKAYIYRVIRTTGYLLFILHIN>A<CVYYWASNYEGIGTT-------RWVYD---388
HCN1EIFHMTYDLASAVVRIFNLIGMMLLLCHWD>G<CLQFLVPLLQDFPPD-------CWVS----332
HCN2EIFHMTYDLASAVMRICNLISMMLLLCHWD>G<CLQFLVPMLQDFPRN-------CWVS----401
HCN3EIFHMTYDLASAVVRIFNLIGMMLLLCHWD>G<CLQFLVPMLQDFPPD-------CWVS----285
HCN4EIFHMTYDLASAVVRIVNLIGMMLLLCHWD>G<CLQFLVPMLQDFPDD-------CWVS----452
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A565Tc.1693G>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.A565Pc.1693G>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome. Mol Diagn Ther. 2016 20(4):353-62. doi: 10.1007/s40291-016-0207-2. 27251404
p.A565Sc.1693G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661
p.Ala565Proc.1693G>C UnknownSIFT:
Polyphen:
p.Ala565Valc.1694C>T UnknownSIFT:
Polyphen: