Paralogue Annotation for KCNH2 residue 16

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 16
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 16

No paralogue variants have been mapped to residue 16 for KCNH2.



KCNH2-------------RR----G-HVAPQNTFL>D<TI---IR----KFEGQSRK-----------28
KCNH1-------------RR----G-LVAPQNTFL>E<NI---VR----RS--NDTN-----------29
KCNH3-------------MR----G-LLAPQNTFL>D<TI---AT----RFDGTHSN-----------28
KCNH4-------------MK----G-LLAPQNTFL>D<TI---AT----RFDGTHSN-----------28
KCNH5-------------KR----G-LVAPQNTFL>E<NI---VR----RS--SESS-----------27
KCNH6-------------RR----G-HVAPQNTYL>D<TI---IR----KFEGQSRK-----------28
KCNH7-------------RR----G-HVAPQNTFL>G<TI---IR----KFEGQNKK-----------28
KCNH8-------------MK----G-LLAPQNTFL>D<TI---AT----RFDGTHSN-----------28
CNGA1-------------SMK---NNIINTQQSFV>T<MPNVIVP----DIEKE------------I-31
CNGA2-------------K--------TNGVK--->-<----SSP----AN-----------------14
CNGA3----------------------INTQY--->-<----SHP----SRTH-------------L-16
CNGA4------------------------------>-<------------------------------
CNGB1SMPPEESFKEEEVAV-----ADPSPQETKE>A<AL---TSTISLRAQGAEISEMNSPSRRVLT104
CNGB3------------------------------>-<------------------------------
HCN1-------------G---------------->-<------------GKPNS-------------9
HCN2------------------------------>R<G-----G----GGRPGE-------------12
HCN3-------------E---------------->-<------------QRPAA-------------9
HCN4-------------LPPSMRKRLYSLPQQVG>A<K-----A----WIMDEE-------------29
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D16Ac.47A>C Inherited ArrhythmiaLQTSrs199472825SIFT: deleterious
Polyphen: possibly 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.D16Nc.46G>A Putative BenignSIFT:
Polyphen: