Paralogue Annotation for KCNH2 residue 98

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 98
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 98

No paralogue variants have been mapped to residue 98 for KCNH2.



KCNH2-----------GAEE-R-------KVE-IA>F<YRK-----------DGS-------------104
KCNH1-----------NYEM-N-------SFE-IL>M<YKK-----------NRT-------------105
KCNH3-----------EHKE-F-------KAE-LI>L<YRK-----------SGL-------------105
KCNH4-----------GHQE-H-------RAE-IC>F<YRK-----------DGS-------------105
KCNH5-----------NYES-N-------CFE-VL>L<YKK-----------NRT-------------103
KCNH6-----------GAEE-C-------KVD-IL>Y<YRK-----------DAS-------------104
KCNH7-----------GSEE-R-------KVE-VT>Y<YHK-----------NGS-------------104
KCNH8-----------EKTE-F-------KGE-IM>F<YKK-----------NGS-------------105
CNGA1-----------EDDD-SASTSEESENEN-P>H<A-R-----------GSF-------------66
CNGA2-----------AADDDTSSE---------L>Q<R-L-----------ADV-------------56
CNGA3-----------SSEE-TSSVLQPGIAME-T>R<G-L-----------ADS-------------60
CNGA4------------------------------>-<------------------------------
CNGB1-----------AQDT-R-------PGLRLL>L<WLEQNLERVLPQPPKSSEVWRDEPAVATGA190
CNGB3------------------------------>-<------------------------------
HCN1RLGTPPGGGGAGAKE-H-------GNS-VC>F<KVD---------------------------62
HCN2RGEPQCSPAGPEGPA-R-------GPK-VS>F<SCR---------------------------128
HCN3-----------------------------A>P<PPA---------------------------30
HCN4------------------------------>A<SCE---------------------------180
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F98Sc.293T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810