Paralogue Annotation for KCNH2 residue 22

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 22
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 22

No paralogue variants have been mapped to residue 22 for KCNH2.



KCNH2RR----G-HVAPQNTFLDTI---IR----K>F<EGQSRK-----------FIIANA-RVEN-C39
KCNH1RR----G-LVAPQNTFLENI---VR----R>S<--NDTN-----------FVLGNA-QIVD-W40
KCNH3MR----G-LLAPQNTFLDTI---AT----R>F<DGTHSN-----------FVLGNA-QVAGLF40
KCNH4MK----G-LLAPQNTFLDTI---AT----R>F<DGTHSN-----------FLLANA-QGTRGF40
KCNH5KR----G-LVAPQNTFLENI---VR----R>S<--SESS-----------FLLGNA-QIVD-W38
KCNH6RR----G-HVAPQNTYLDTI---IR----K>F<EGQSRK-----------FLIANA-QMEN-C39
KCNH7RR----G-HVAPQNTFLGTI---IR----K>F<EGQNKK-----------FIIANA-RVQN-C39
KCNH8MK----G-LLAPQNTFLDTI---AT----R>F<DGTHSN-----------FILANA-QVAKGF40
CNGA1SMK---NNIINTQQSFVTMPNVIVP----D>I<EKE------------I--------------31
CNGA2K--------TNGVK--------SSP----A>N<------------------------------14
CNGA3---------INTQY--------SHP----S>R<TH-------------L--------------16
CNGA4------------------------------>-<------------------------------
CNGB1AV-----ADPSPQETKEAAL---TSTISLR>A<QGAEISEMNSPSRRVLTWLMKGVEKVIP-Q116
CNGB3------------------------------>-<------------------------------
HCN1G----------------------------->G<KPNS--------------------------9
HCN2-----------------RG-----G----G>G<RPGE--------------------------12
HCN3E----------------------------->Q<RPAA--------------------------9
HCN4LPPSMRKRLYSLPQQVGAK-----A----W>I<MDEE--------------------------29
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F22Sc.65T>C Inherited ArrhythmiaLQTSrs199472826SIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833
p.F22Yc.65T>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol. 2012 60(24):2515-24. doi: 10.1016/j.jacc.2012.08.1009. 23158531