Paralogue Annotation for KCNH2 residue 925

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 925
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 925

No paralogue variants have been mapped to residue 925 for KCNH2.



KCNH2EQ-----PGEVSALGPGRAGAGPSSRGRPG>G<---P--WGESPSSGPSS-------PESSED943
KCNH1QRF-----RQQKEARL-AAERGGRDLDDLD>V<---E--KGNVLTEHASA-------NHSLVK784
KCNH3EKE-----TDGEQG---P-TVSPAPADEPS>S<---P--LLSPGCTSSSSAAKLLSPRRTAPR776
KCNH4EAE-----SGAEPGGGPRPR-RPLLLPNLS>P<---A--RPR--GSLVSLLGEELPPFSALVS774
KCNH5QKF-----KQQKELRNQGSTQGDPERNQLQ>V<---E--SRSLQNGASIT-------GTSVVT754
KCNH6ELGPQFPSKGYSLLGPGSQNSMG------A>G<---P--CAPG-HPDAAP-------PLSISD790
KCNH7----------NSTNDPEDSADTIRHYQSSK>R<---H--FEEKKSRSSSF-------ISSIDD943
KCNH8EDE-----EEEEEGEEEEAVSLSPICTRGS>S<---S--RNKKVGSNKAYLGLSLKQLASGT-760
CNGA1ILA-----EYESMQQKLKQRLTKVEKFLKP>-<----LIDTEFSSIEGPG---------AESG685
CNGA2LLA-----EYTGAQQKLKQRITVLETKMKQ>-<----NNEDDYLSDGMNS---------PELA659
CNGA3LLA-----EYNATQMKMKQRLSQLESQVKG>-<----GG-DKPLADGEVPG-------DATKT689
CNGA4LLA-----ELESSALKIAYRIERLEWQTRE>W<---PMPEDLAEADDEGE---------PEEG557
CNGB1GGK-----LAHLRARLKELAALEAAAKQQE>L<---V--EQAKSSQDVKGE-------EGSAA1169
CNGB3-------------ARLLKLKREQAAQKKEN>S<EGGE--EEGKENEDKQKE-------NEDKQ727
HCN1EMV-----QAIAPINYPQMTTLNSTSSTTT>P<---T--SRMRTQSPPVYT-------ATSLS674
HCN2EMV-----QQAELGQRVGLFPPPPPPPQVT>S<---A--IATLQQAAAMSF-------CPQVA743
HCN3DMA-----RGVRGRAPSTGAQLSGKPVLWE>P<---L--VHAPLQAAAVTS-------NVAIA623
HCN4EMA-----HCAHRVQAAASATPTPTPVIWT>P<---L--IQAPLQAAAATT-------SVAIA794
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G925Rc.2773G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: possibly damaging
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
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative Benign Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
p.G925Ec.2774G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.Gly925Alac.2774G>C UnknownSIFT:
Polyphen:
p.Gly925Valc.2774G>T UnknownSIFT:
Polyphen: