Paralogue Annotation for KCNH2 residue 221

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 221
Reference Amino Acid: H - Histidine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 221

No paralogue variants have been mapped to residue 221 for KCNH2.



KCNH2PGAVVVDVDLTPAAPSSESLALDEVTAMDN>H<VAGLGPAEERRALVGPGS------------239
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<-----PG-----------------------169
KCNH7--VVVIDS----SKHSDDSVAMKHFKSPTK>E<SCSPSEADDTKALIQPSK------------224
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1AEEEAEKEPQDWAETKEEPEAEAEAASSGV>P<ATKQHPEVQVEDTDADSCPLMAEENPPSTV489
CNGB3TSEEPHTNIQDKLSKKN---------SSGD>L<TTNPDPQNAAEPTGT---------------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H221Qc.663C>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775