Paralogue Annotation for KCNH2 residue 291

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 291
Reference Amino Acid: M - Methionine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 291

No paralogue variants have been mapped to residue 291 for KCNH2.



KCNH2CSL----ARTRSRESCASVRRASSADDIEA>M<--------RAGVLPPPPRHASTGAMHPLRS313
KCNH1------------------------------>-<------------------------------
KCNH3-RY----GRAR------------------->-<------------------------------159
KCNH4-SL----GRRG------------------->-<------------------------------160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7SQL----SHSRSRESLCSIRRASSVHDIEG>F<GVHPKNIFRDRHASEDNGRNVKGPFNHIKS312
KCNH8-VK----GRSR------------------->-<------------------------------155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1HRKKLPSEDDEA-E---------ELKALSP>A<ESPVVAWSDPTTPKDTDGQDRAASTASTNS561
CNGB3-----------------------EQKEMDP>G<KE------GPNSPQNK------PPAAPVIN125
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M291Tc.872T>C Inherited ArrhythmiaLQTSrs199472881SIFT: tolerated
Polyphen: possibly damaging
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