Paralogue Annotation for KCNH2 residue 213

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 213
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 213

No paralogue variants have been mapped to residue 213 for KCNH2.



KCNH2GGAGGAGAPGAVVVDVDLTPAAPSSESLAL>D<EVTAMDNHVAGLGPAEERRALVGPGS----239
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6GGPG-------------------------->-<-------------PG---------------169
KCNH7EDPD------VVVIDS----SKHSDDSVAM>K<HFKSPTKESCSPSEADDTKALIQPSK----224
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1AKEEAEEVAEEEAEKEPQDWAETKEEPEAE>A<EAASSGVPATKQHPEVQVEDTDADSCPLMA481
CNGB3LKTKSTPVTSEEPHTNIQDKLSKKN----->-<---SSGDLTTNPDPQNAAEPTGT-------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D213Gc.638A>G Putative BenignSIFT: tolerated
Polyphen: benign
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510