Paralogue Annotation for KCNH2 residue 241

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 241
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 241

No paralogue variants have been mapped to residue 241 for KCNH2.



KCNH2ERRALVGPGS-----------------P-->P<RSA--PGQLPS--PRAHSLNPDASGSS---264
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<------------------------------
KCNH7DTKALIQPSK-----------------CSP>L<VNISGPLDHSSPKRQWDRLYPDMLQSS---255
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1QVEDTDADSCPLMAEENPPSTVLPPPSPA->-<-KS------------------DTLIVPSSA507
CNGB3AAEPTGT----------------------->-<-------------------------VP---99
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P241Lc.722C>T Inherited ArrhythmiaLQTSrs199472871SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013
p.P241Sc.721C>T Putative BenignSIFT:
Polyphen: