Paralogue Annotation for KCNH2 residue 197

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 197
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 197

No paralogue variants have been mapped to residue 197 for KCNH2.



KCNH2LPALLALTARESSVRSGGAGGAGAPGAVVV>D<VDLTPAAPSSESLALDEVTAMDNHVAGLGP227
KCNH1------------------------------>-<------------------------------
KCNH3RR---------------------------->-<------------------------------153
KCNH4EN---------------------------->-<------------------------------154
KCNH5------------------------------>-<------------------------------
KCNH6LLSQSFLGSEGSHGRPGGPG---------->-<-----------------------------P168
KCNH7FPGLRVLTYRKQSLPQEDPD------VVVI>D<S----SKHSDDSVAMKHFKSPTKESCSPSE212
KCNH8DK---------------------------->-<------------------------------149
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1LWEEVGEEAKKEAEEKAKEEAEEVAEEEAE>K<EPQDWAETKEEPEAEAEAASSGVPATKQHP465
CNGB3---TTAQEENKGEEKSLKTKSTPVTSEEPH>T<NIQDKLSKKN---------SSGDLTTNPDP88
HCN1F----------------------------->-<------------------------------81
HCN2G----------------------------->-<------------------------------150
HCN3G----------------------------->-<------------------------------41
HCN4L----------------------------->-<------------------------------201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D197Yc.589G>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