Paralogue Annotation for KCNH2 residue 242

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 242
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 242

No paralogue variants have been mapped to residue 242 for KCNH2.



KCNH2RRALVGPGS-----------------P--P>R<SA--PGQLPS--PRAHSLNPDASGSS----264
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7TKALIQPSK-----------------CSPL>V<NISGPLDHSSPKRQWDRLYPDMLQSS----255
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1VEDTDADSCPLMAEENPPSTVLPPPSPA-->-<KS------------------DTLIVPSSAS508
CNGB3AEPTGT------------------------>-<------------------------VP----99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R242Gc.724C>G Inherited ArrhythmiaLQTSrs199472872SIFT: tolerated
Polyphen: benign
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