Paralogue Annotation for KCNH2 residue 215

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 215
Reference Amino Acid: V - Valine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 215

No paralogue variants have been mapped to residue 215 for KCNH2.



KCNH2AGGAGAPGAVVVDVDLTPAAPSSESLALDE>V<TAMDNHVAGLGPAEERRALVGPGS------239
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6PG---------------------------->-<-----------PG-----------------169
KCNH7PD------VVVIDS----SKHSDDSVAMKH>F<KSPTKESCSPSEADDTKALIQPSK------224
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EEAEEVAEEEAEKEPQDWAETKEEPEAEAE>A<ASSGVPATKQHPEVQVEDTDADSCPLMAEE483
CNGB3TKSTPVTSEEPHTNIQDKLSKKN------->-<-SSGDLTTNPDPQNAAEPTGT---------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V215Gc.644T>G Putative Benignrs199473500SIFT: deleterious
Polyphen: possibly damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300