Paralogue Annotation for KCNH2 residue 93

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 93
Reference Amino Acid: K - Lysine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 93

No paralogue variants have been mapped to residue 93 for KCNH2.



KCNH2-----------------GAEE-R------->K<VE-IAFYRK-----------DGS-------104
KCNH1-----------------NYEM-N------->S<FE-ILMYKK-----------NRT-------105
KCNH3-----------------EHKE-F------->K<AE-LILYRK-----------SGL-------105
KCNH4-----------------GHQE-H------->R<AE-ICFYRK-----------DGS-------105
KCNH5-----------------NYES-N------->C<FE-VLLYKK-----------NRT-------103
KCNH6-----------------GAEE-C------->K<VD-ILYYRK-----------DAS-------104
KCNH7-----------------GSEE-R------->K<VE-VTYYHK-----------NGS-------104
KCNH8-----------------EKTE-F------->K<GE-IMFYKK-----------NGS-------105
CNGA1-----------------EDDD-SASTSEES>E<NEN-PHA-R-----------GSF-------66
CNGA2-----------------AADDDTSSE---->-<----LQR-L-----------ADV-------56
CNGA3-----------------SSEE-TSSVLQPG>I<AME-TRG-L-----------ADS-------60
CNGA4------------------------------>-<------------------------------
CNGB1-----------------AQDT-R------->P<GLRLLLWLEQNLERVLPQPPKSSEVWRDEP184
CNGB3------------------------------>-<------------------------------
HCN1PAAAEKRLGTPPGGGGAGAKE-H------->G<NS-VCFKVD---------------------62
HCN2PNGECGRGEPQCSPAGPEGPA-R------->G<PK-VSFSCR---------------------128
HCN3------------------------------>-<----APPPA---------------------30
HCN4------------------------------>-<-----ASCE---------------------180
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K93Rc.278A>G Inherited ArrhythmiaSIFT:
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