Paralogue Annotation for KCNH2 residue 644

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 644
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 644

No paralogue variants have been mapped to residue 644 for KCNH2.



KCNH2ALYFTFSSLTSVGFGNVSPNTNSEKIFSIC>V<MLIGSLMYASIFGNVSAIIQRLYSGTARYH674
KCNH1SLYFTMTSLTSVGFGNIAPSTDIEKIFAVA>I<MMIGSLLYATIFGNVTTIFQQMYANTNRYH513
KCNH3SLYFALSSLTSVGFGNVSANTDTEKIFSIC>T<MLIGALMHAVVFGNVTAIIQRMYARRFLYH515
KCNH4ALYFTLSSLTSVGFGNVCANTDAEKIFSIC>T<MLIGALMHAVVFGNVTAIIQRMYSRRSLYH489
KCNH5SLYFTMTSLTTIGFGNIAPTTDVEKMFSVA>M<MMVGSLLYATIFGNVTTIFQQMYANTNRYH482
KCNH6ALYFTFSSLTSVGFGNVSPNTNSEKVFSIC>V<MLIGSLMYASIFGNVSAIIQRLYSGTARYH526
KCNH7ALYFTFSSLTSVGFGNVSPNTNSEKIFSIC>V<MLIGSLMYASIFGNVSAIIQRLYSGTARYH677
KCNH8ALYFTLSSLTSVGFGNVSANTDAEKIFSIC>T<MLIGALMHALVFGNVTAIIQRMYSRWSLYH484
CNGA1SLYWSTLTLTTIG-ETPPPVRDSEYVFVVV>D<FLIGVLIFATIVGNIGSMISNMNAARAEFQ411
CNGA2CLYWSTLTLTTIG-ETPPPVKDEEYLFVIF>D<FLIGVLIFATIVGNVGSMISNMNATRAEFQ386
CNGA3SLYWSTLTLTTIG-ETPPPVKDEEYLFVVV>D<FLVGVLIFATIVGNVGSMISNMNASRAEFQ414
CNGA4SFYFSTLILTTVG-DTPPPAREEEYLFMVG>D<FLLAVMGFATIMGSMSSVIYNMNTADAAFY280
CNGB1CYYFAVKTLITIG-GLPDPKTLFEIVFQLL>N<YFTGVFAFSVMIGQMRDVVGAATAGQTYYR894
CNGB3CYYWAVRTLITIG-GLPEPQTLFEIVFQLL>N<FFSGVFVFSSLIGQMRDVIGAATANQNYFR456
HCN1ALFKAMSHMLCIGYGAQAPVSMSDLWITML>S<MIVGATCYAMFVGHATALIQSLDSSRRQYQ408
HCN2ALFKAMSHMLCIGYGRQAPESMTDIWLTML>S<MIVGATCYAMFIGHATALIQSLDSSRRQYQ477
HCN3ALFKAMSHMLCIGYGQQAPVGMPDVWLTML>S<MIVGATCYAMFIGHATALIQSLDSSRRQYQ361
HCN4ALFKAMSHMLCIGYGRQAPVGMSDVWLTML>S<MIVGATCYAMFIGHATALIQSLDSSRRQYQ528
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V644Fc.1930G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
Inherited 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.V644Lc.1930G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly 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.V644Ic.1930G>A Putative BenignSIFT:
Polyphen: