Paralogue Annotation for KCNH2 residue 238

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 238
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 238

No paralogue variants have been mapped to residue 238 for KCNH2.



KCNH2ESLALDEVTAMDNHVAGLGPAEERRALVGP>G<S-----------------P--PRSA--PGQ247
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6-------------------PG--------->-<------------------------------169
KCNH7DSVAMKHFKSPTKESCSPSEADDTKALIQP>S<K-----------------CSPLVNISGPLD236
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EPEAEAEAASSGVPATKQHPEVQVEDTDAD>S<CPLMAEENPPSTVLPPPSPA---KS-----498
CNGB3---------SSGDLTTNPDPQNAAEPTGT->-<------------------------------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G238Sc.712G>A Inherited ArrhythmiaLQTSrs199473501SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476