Paralogue Annotation for KCNH2 residue 312

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 312
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 312

No paralogue variants have been mapped to residue 312 for KCNH2.



KCNH2AM--------RAGVLPPPPRHASTGAMHPL>R<SGLLNSTSDSDLVRYR---TISKIPQITLN339
KCNH1------------------------------>-<-------------KFA--------------152
KCNH3------------------------------>-<--------------S---------------160
KCNH4------------------------------>-<--------------A---------------161
KCNH5------------------------------>-<-------------KFA--------------150
KCNH6------------------------------>-<---------TGRGKYR---TISQIPQFTLN187
KCNH7GFGVHPKNIFRDRHASEDNGRNVKGPFNHI>K<SSLLGSTSDSNLNKYS---TINKIPQLTLN338
KCNH8------------------------------>-<--------------A---------------156
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1PAESPVVAWSDPTTPKDTDGQDRAASTAST>N<SAIINDRLQELVKLFKERTEKV-KEKLIDP589
CNGB3PGKE------GPNSPQNK------PPAAPV>I<NEYADAQLHNLVKRMRQRTALY-KKKLVEG153
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R312Cc.934C>T Inherited ArrhythmiaLQTSrs199472885SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
Inherited 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
Unknown Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013 6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. 23861362
p.R312Hc.935G>A Putative BenignSIFT:
Polyphen: