Paralogue Annotation for KCNH2 residue 218

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 218
Reference Amino Acid: M - Methionine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 218

No paralogue variants have been mapped to residue 218 for KCNH2.



KCNH2AGAPGAVVVDVDLTPAAPSSESLALDEVTA>M<DNHVAGLGPAEERRALVGPGS---------239
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<--------PG--------------------169
KCNH7-----VVVIDS----SKHSDDSVAMKHFKS>P<TKESCSPSEADDTKALIQPSK---------224
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EEVAEEEAEKEPQDWAETKEEPEAEAEAAS>S<GVPATKQHPEVQVEDTDADSCPLMAEENPP486
CNGB3TPVTSEEPHTNIQDKLSKKN---------S>S<GDLTTNPDPQNAAEPTGT------------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M218Vc.652A>G Inherited ArrhythmiaLQTSrs199472869SIFT: 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