Paralogue Annotation for KCNH2 residue 308

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 308
Reference Amino Acid: M - Methionine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 308

No paralogue variants have been mapped to residue 308 for KCNH2.



KCNH2DDIEAM--------RAGVLPPPPRHASTGA>M<HPLRSGLLNSTSDSDLVRYR---TISKIPQ335
KCNH1------------------------------>-<-----------------KFA----------152
KCNH3------------------------------>-<------------------S-----------160
KCNH4------------------------------>-<------------------A-----------161
KCNH5------------------------------>-<-----------------KFA----------150
KCNH6------------------------------>-<-------------TGRGKYR---TISQIPQ183
KCNH7HDIEGFGVHPKNIFRDRHASEDNGRNVKGP>F<NHIKSSLLGSTSDSNLNKYS---TINKIPQ334
KCNH8------------------------------>-<------------------A-----------156
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1KALSPAESPVVAWSDPTTPKDTDGQDRAAS>T<ASTNSAIINDRLQELVKLFKERTEKV-KEK585
CNGB3KEMDPGKE------GPNSPQNK------PP>A<APVINEYADAQLHNLVKRMRQRTALY-KKK149
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M308Rc.923T>G Putative Benignrs372559632SIFT: deleterious
Polyphen: benign
p.M308Ic.924G>A Putative BenignSIFT:
Polyphen:
p.M308Vc.922A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661