Paralogue Annotation for KCNH2 residue 294

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 294
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 294

No paralogue variants have been mapped to residue 294 for KCNH2.



KCNH2SRESCASVRRASSADDIEAM--------RA>G<VLPPPPRHASTGAMHPLRSGLLNSTSDSDL324
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<---------------------------TGR172
KCNH7SRESLCSIRRASSVHDIEGFGVHPKNIFRD>R<HASEDNGRNVKGPFNHIKSSLLGSTSDSNL323
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1A-E---------ELKALSPAESPVVAWSDP>T<TPKDTDGQDRAASTASTNSAIINDRLQELV572
CNGB3------------EQKEMDPGKE------GP>N<SPQNK------PPAAPVINEYADAQLHNLV136
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G294Vc.881G>T Other Cardiac Phenotypers199473549SIFT: deleterious
Polyphen: possibly damaging
ReportsOther Cardiac Phenotype Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res. 2005 67(3):388-96. 15913580
p.G294Rc.880G>C Putative BenignSIFT: tolerated
Polyphen: benign