Paralogue Annotation for KCNH2 residue 323

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 323
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 323

No paralogue variants have been mapped to residue 323 for KCNH2.



KCNH2AGVLPPPPRHASTGAMHPLRSGLLNSTSDS>D<LVRYR---TISKIPQITLNFVDLKGDPFLA350
KCNH1------------------------------>-<--KFA------------------RLTRALT159
KCNH3------------------------------>-<---S------------------KGFNANRR168
KCNH4------------------------------>-<---A-----------------TWKFRSARR170
KCNH5------------------------------>-<--KFA------------------RLTRALT157
KCNH6-----------------------------T>G<RGKYR---TISQIPQFTLNFVEFNLEKHRS198
KCNH7DRHASEDNGRNVKGPFNHIKSSLLGSTSDS>N<LNKYS---TINKIPQLTLNFSEVKTEKKNS349
KCNH8------------------------------>-<---A-----------------GTHFDSARR165
CNGA1------------------------------>-<-------------------KKK-KKKEKKS114
CNGA2------------------------------>-<-------------------FLE-RFRGPEL103
CNGA3------------------------------>-<-------------------FPD-RFRGAEL107
CNGA4------------------------------>-<----------------------------KV7
CNGB1PTTPKDTDGQDRAASTASTNSAIINDRLQE>L<VKLFKERTEKV-KEKLIDPDVTSDEE-SPK599
CNGB3PNSPQNK------PPAAPVINEYADAQLHN>L<VKRMRQRTALY-KKKLVEGDLSS-----PE159
HCN1------------------------------>-<-----------------------EDAEGPR88
HCN2------------------------------>-<-----------------------PAGEPRG157
HCN3------------------------------>-<-----------------------PE-----43
HCN4------------------------------>-<-----------------------PEAEVRL208
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D323Nc.967G>A Inherited ArrhythmiaLQTSrs199472887SIFT: 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