Paralogue Annotation for KCNH2 residue 301

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 301
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 301

No paralogue variants have been mapped to residue 301 for KCNH2.



KCNH2VRRASSADDIEAM--------RAGVLPPPP>R<HASTGAMHPLRSGLLNSTSDSDLVRYR---328
KCNH1------------------------------>-<------------------------KFA---152
KCNH3------------------------------>-<-------------------------S----160
KCNH4------------------------------>-<-------------------------A----161
KCNH5------------------------------>-<------------------------KFA---150
KCNH6------------------------------>-<--------------------TGRGKYR---176
KCNH7IRRASSVHDIEGFGVHPKNIFRDRHASEDN>G<RNVKGPFNHIKSSLLGSTSDSNLNKYS---327
KCNH8------------------------------>-<-------------------------A----156
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1-----ELKALSPAESPVVAWSDPTTPKDTD>G<QDRAASTASTNSAIINDRLQELVKLFKERT579
CNGB3-----EQKEMDPGKE------GPNSPQNK->-<----PPAAPVINEYADAQLHNLVKRMRQRT143
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R301Lc.902G>T Inherited ArrhythmiaLQTSrs199472883SIFT: deleterious
Polyphen: probably 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