Paralogue Annotation for KCNH2 residue 109

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 109
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 109

No paralogue variants have been mapped to residue 109 for KCNH2.



KCNH2---DGS--------------------CFLC>L<VDVV--------------------------113
KCNH1---NRT--------------------PVWF>F<VKIA--------------------------114
KCNH3---SGL--------------------PFWC>L<LDVI--------------------------114
KCNH4---DGS--------------------AFWC>L<LDMM--------------------------114
KCNH5---NRT--------------------PVWF>Y<MQIA--------------------------112
KCNH6---DAS--------------------SFRC>L<VDVV--------------------------113
KCNH7---NGS--------------------TFIC>N<THII--------------------------113
KCNH8---NGS--------------------PFWC>L<LDIV--------------------------114
CNGA1---GSF--------------------SYKS>L<RKG-G-------------------------75
CNGA2---ADV--------------------D-AP>Q<QGRSG-------------------------65
CNGA3---ADS--------------------GQGS>F<TGQ-G-------------------------69
CNGA4------------------------------>-<------------------------------
CNGB1QPPKSSEVWRDEPAVATGAASDPAPPGRPQ>E<MGPKLQARETPSLPTPIPLQPKEEPKEAPA232
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L109Pc.326T>C Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833
Inherited ArrhythmiaLQTS Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. BMC Med Genet. 2014 15:31. doi: 10.1186/1471-2350-15-31. 24606995
p.L109Rc.326T>G Putative Benignrs199473498SIFT: tolerated
Polyphen: benign