Paralogue Annotation for KCNH2 residue 219

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 219
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 219

No paralogue variants have been mapped to residue 219 for KCNH2.



KCNH2GAPGAVVVDVDLTPAAPSSESLALDEVTAM>D<NHVAGLGPAEERRALVGPGS----------239
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6------------------------------>-<-------PG---------------------169
KCNH7----VVVIDS----SKHSDDSVAMKHFKSP>T<KESCSPSEADDTKALIQPSK----------224
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EVAEEEAEKEPQDWAETKEEPEAEAEAASS>G<VPATKQHPEVQVEDTDADSCPLMAEENPPS487
CNGB3PVTSEEPHTNIQDKLSKKN---------SS>G<DLTTNPDPQNAAEPTGT-------------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D219Vc.656A>T Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome. Hum Mutat. 2015 36(8):764-73. doi: 10.1002/humu.22805. 25914329