Paralogue Annotation for KCNH2 residue 252

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 252
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 252

No paralogue variants have been mapped to residue 252 for KCNH2.



KCNH2------------P--PRSA--PGQLPS--P>R<AHSLNPDASGSS------CSL----ARTRS272
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<-------------------RY----GRAR-159
KCNH4------------------------------>-<-------------------SL----GRRG-160
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7------------CSPLVNISGPLDHSSPKR>Q<WDRLYPDMLQSS------SQL----SHSRS263
KCNH8------------------------------>-<-------------------VK----GRSR-155
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1ENPPSTVLPPPSPA---KS----------->-<------DTLIVPSSASGTHRKKLPSEDDEA522
CNGB3------------------------------>-<----------VP------------------99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R252Gc.754C>G Inherited ArrhythmiaLQTSrs199472874SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013
p.Arg252Glnc.755G>A UnknownSIFT:
Polyphen: