Paralogue Annotation for KCNH2 residue 660

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 660
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 660

No paralogue variants have been mapped to residue 660 for KCNH2.



KCNH2VSPNTNSEKIFSICVMLIGSLMYASIFGNV>S<AIIQRLYSGTARYHTQMLRVREFIRFHQIP690
KCNH1IAPSTDIEKIFAVAIMMIGSLLYATIFGNV>T<TIFQQMYANTNRYHEMLNSVRDFLKLYQVP529
KCNH3VSANTDTEKIFSICTMLIGALMHAVVFGNV>T<AIIQRMYARRFLYHSRTRDLRDYIRIHRIP531
KCNH4VCANTDAEKIFSICTMLIGALMHAVVFGNV>T<AIIQRMYSRRSLYHSRMKDLKDFIRVHRLP505
KCNH5IAPTTDVEKMFSVAMMMVGSLLYATIFGNV>T<TIFQQMYANTNRYHEMLNNVRDFLKLYQVP498
KCNH6VSPNTNSEKVFSICVMLIGSLMYASIFGNV>S<AIIQRLYSGTARYHTQMLRVKEFIRFHQIP542
KCNH7VSPNTNSEKIFSICVMLIGSLMYASIFGNV>S<AIIQRLYSGTARYHMQMLRVKEFIRFHQIP693
KCNH8VSANTDAEKIFSICTMLIGALMHALVFGNV>T<AIIQRMYSRWSLYHTRTKDLKDFIRVHHLP500
CNGA1PPPVRDSEYVFVVVDFLIGVLIFATIVGNI>G<SMISNMNAARAEFQARIDAIKQYMHFRNVS427
CNGA2PPPVKDEEYLFVIFDFLIGVLIFATIVGNV>G<SMISNMNATRAEFQAKIDAVKHYMQFRKVS402
CNGA3PPPVKDEEYLFVVVDFLVGVLIFATIVGNV>G<SMISNMNASRAEFQAKIDSIKQYMQFRKVT430
CNGA4PPPAREEEYLFMVGDFLLAVMGFATIMGSM>S<SVIYNMNTADAAFYPDHALVKKYMKLQHVN296
CNGB1PDPKTLFEIVFQLLNYFTGVFAFSVMIGQM>R<DVVGAATAGQTYYRSCMDSTVKYMNFYKIP910
CNGB3PEPQTLFEIVFQLLNFFSGVFVFSSLIGQM>R<DVIGAATANQNYFRACMDDTIAYMNNYSIP472
HCN1QAPVSMSDLWITMLSMIVGATCYAMFVGHA>T<ALIQSLDSSRRQYQEKYKQVEQYMSFHKLP424
HCN2QAPESMTDIWLTMLSMIVGATCYAMFIGHA>T<ALIQSLDSSRRQYQEKYKQVEQYMSFHKLP493
HCN3QAPVGMPDVWLTMLSMIVGATCYAMFIGHA>T<ALIQSLDSSRRQYQEKYKQVEQYMSFHKLP377
HCN4QAPVGMSDVWLTMLSMIVGATCYAMFIGHA>T<ALIQSLDSSRRQYQEKYKQVEQYMSFHKLP544
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S660Lc.1979C>T Inherited ArrhythmiaLQTSrs199472979SIFT: deleterious
Polyphen: probably 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