Paralogue Annotation for KCNH2 residue 20

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 20
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 20

No paralogue variants have been mapped to residue 20 for KCNH2.



KCNH2------RR----G-HVAPQNTFLDTI---I>R<----KFEGQSRK-----------FIIANA-34
KCNH1------RR----G-LVAPQNTFLENI---V>R<----RS--NDTN-----------FVLGNA-35
KCNH3------MR----G-LLAPQNTFLDTI---A>T<----RFDGTHSN-----------FVLGNA-34
KCNH4------MK----G-LLAPQNTFLDTI---A>T<----RFDGTHSN-----------FLLANA-34
KCNH5------KR----G-LVAPQNTFLENI---V>R<----RS--SESS-----------FLLGNA-33
KCNH6------RR----G-HVAPQNTYLDTI---I>R<----KFEGQSRK-----------FLIANA-34
KCNH7------RR----G-HVAPQNTFLGTI---I>R<----KFEGQNKK-----------FIIANA-34
KCNH8------MK----G-LLAPQNTFLDTI---A>T<----RFDGTHSN-----------FILANA-34
CNGA1------SMK---NNIINTQQSFVTMPNVIV>P<----DIEKE------------I--------31
CNGA2------K--------TNGVK--------SS>P<----AN------------------------14
CNGA3---------------INTQY--------SH>P<----SRTH-------------L--------16
CNGA4------------------------------>-<------------------------------
CNGB1FKEEEVAV-----ADPSPQETKEAAL---T>S<TISLRAQGAEISEMNSPSRRVLTWLMKGVE111
CNGB3------------------------------>-<------------------------------
HCN1------G----------------------->-<-----GKPNS--------------------9
HCN2-----------------------RG----->G<----GGRPGE--------------------12
HCN3------E----------------------->-<-----QRPAA--------------------9
HCN4------LPPSMRKRLYSLPQQVGAK----->A<----WIMDEE--------------------29
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R20Gc.58C>G Inherited ArrhythmiaLQTSrs199473486SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
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
p.R20Lc.59G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661