Paralogue Annotation for KCNH2 residue 320

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 320
Reference Amino Acid: S - Serine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 320

No paralogue variants have been mapped to residue 320 for KCNH2.



KCNH2--RAGVLPPPPRHASTGAMHPLRSGLLNST>S<DSDLVRYR---TISKIPQITLNFVDLKGDP347
KCNH1------------------------------>-<-----KFA------------------RLTR156
KCNH3------------------------------>-<------S------------------KGFNA165
KCNH4------------------------------>-<------A-----------------TWKFRS167
KCNH5------------------------------>-<-----KFA------------------RLTR154
KCNH6------------------------------>-<-TGRGKYR---TISQIPQFTLNFVEFNLEK195
KCNH7IFRDRHASEDNGRNVKGPFNHIKSSLLGST>S<DSNLNKYS---TINKIPQLTLNFSEVKTEK346
KCNH8------------------------------>-<------A-----------------GTHFDS162
CNGA1------------------------------>-<----------------------KKK-KKKE111
CNGA2------------------------------>-<----------------------FLE-RFRG100
CNGA3------------------------------>-<----------------------FPD-RFRG104
CNGA4------------------------------>-<------------------------------
CNGB1WSDPTTPKDTDGQDRAASTASTNSAIINDR>L<QELVKLFKERTEKV-KEKLIDPDVTSDEE-596
CNGB3--GPNSPQNK------PPAAPVINEYADAQ>L<HNLVKRMRQRTALY-KKKLVEGDLSS----157
HCN1------------------------------>-<--------------------------EDAE85
HCN2------------------------------>-<--------------------------PAGE154
HCN3------------------------------>-<--------------------------PE--43
HCN4------------------------------>-<--------------------------PEAE205
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S320Lc.959C>T Inherited ArrhythmiaLQTSrs199472886SIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
p.S320Wc.959C>G 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