Paralogue Annotation for KCNH2 residue 314

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 314
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 314

No paralogue variants have been mapped to residue 314 for KCNH2.



KCNH2--------RAGVLPPPPRHASTGAMHPLRS>G<LLNSTSDSDLVRYR---TISKIPQITLNFV341
KCNH1------------------------------>-<-----------KFA----------------152
KCNH3------------------------------>-<------------S-----------------160
KCNH4------------------------------>-<------------A-----------------161
KCNH5------------------------------>-<-----------KFA----------------150
KCNH6------------------------------>-<-------TGRGKYR---TISQIPQFTLNFV189
KCNH7GVHPKNIFRDRHASEDNGRNVKGPFNHIKS>S<LLGSTSDSNLNKYS---TINKIPQLTLNFS340
KCNH8------------------------------>-<------------A-----------------156
CNGA1------------------------------>-<----------------------------KK106
CNGA2------------------------------>-<----------------------------FL95
CNGA3------------------------------>-<----------------------------FP99
CNGA4------------------------------>-<------------------------------
CNGB1ESPVVAWSDPTTPKDTDGQDRAASTASTNS>A<IINDRLQELVKLFKERTEKV-KEKLIDPDV591
CNGB3KE------GPNSPQNK------PPAAPVIN>E<YADAQLHNLVKRMRQRTALY-KKKLVEGDL155
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G314Sc.940G>A Inherited ArrhythmiaLQTSrs199473504SIFT: tolerated
Polyphen: benign
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