Paralogue Annotation for KCNH2 residue 685

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 685
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 685

No paralogue variants have been mapped to residue 685 for KCNH2.



KCNH2IFGNVSAIIQRLYSGTARYHTQMLRVREFI>R<FHQIPNPLRQRLEEYFQHAWSYTNGIDMNA715
KCNH1IFGNVTTIFQQMYANTNRYHEMLNSVRDFL>K<LYQVPKGLSERVMDYIVSTWSMSRGIDTEK554
KCNH3VFGNVTAIIQRMYARRFLYHSRTRDLRDYI>R<IHRIPKPLKQRMLEYFQATWAVNNGIDTTE556
KCNH4VFGNVTAIIQRMYSRRSLYHSRMKDLKDFI>R<VHRLPRPLKQRMLEYFQTTWAVNSGIDANE530
KCNH5IFGNVTTIFQQMYANTNRYHEMLNNVRDFL>K<LYQVPKGLSERVMDYIVSTWSMSKGIDTEK523
KCNH6IFGNVSAIIQRLYSGTARYHTQMLRVKEFI>R<FHQIPNPLRQRLEEYFQHAWSYTNGIDMNA567
KCNH7IFGNVSAIIQRLYSGTARYHMQMLRVKEFI>R<FHQIPNPLRQRLEEYFQHAWTYTNGIDMNM718
KCNH8VFGNVTAIIQRMYSRWSLYHTRTKDLKDFI>R<VHHLPQQLKQRMLEYFQTTWSVNNGIDSNE525
CNGA1IVGNIGSMISNMNAARAEFQARIDAIKQYM>H<FRNVSKDMEKRVIKWFDYLWTNKKTVDEKE452
CNGA2IVGNVGSMISNMNATRAEFQAKIDAVKHYM>Q<FRKVSKGMEAKVIRWFDYLWTNKKTVDERE427
CNGA3IVGNVGSMISNMNASRAEFQAKIDSIKQYM>Q<FRKVTKDLETRVIRWFDYLWANKKTVDEKE455
CNGA4IMGSMSSVIYNMNTADAAFYPDHALVKKYM>K<LQHVNRKLERRVIDWYQHLQINKKMTNEVA321
CNGB1MIGQMRDVVGAATAGQTYYRSCMDSTVKYM>N<FYKIPKSVQNRVKTWYEYTWHSQGMLDESE935
CNGB3LIGQMRDVIGAATANQNYFRACMDDTIAYM>N<NYSIPKLVQKRVRTWYEYTWDSQRMLDESD497
HCN1FVGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPADMRQKIHDYYEHRYQG-KIFDEEN448
HCN2FIGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPADFRQKIHDYYEHRYQG-KMFDEDS517
HCN3FIGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPADTRQRIHEYYEHRYQG-KMFDEES401
HCN4FIGHATALIQSLDSSRRQYQEKYKQVEQYM>S<FHKLPPDTRQRIHDYYEHRYQG-KMFDEES568
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R685Hc.2054G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487
p.R685Cc.2053C>T Putative BenignSIFT:
Polyphen: