Paralogue Annotation for KCNH2 residue 922

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 922
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 922

No paralogue variants have been mapped to residue 922 for KCNH2.



KCNH2T--EQ-----PGEVSALGPGRAGAGPSSRG>R<PGG---P--WGESPSSGPSS-------PES940
KCNH1RLFQRF-----RQQKEARL-AAERGGRDLD>D<LDV---E--KGNVLTEHASA-------NHS781
KCNH3TLEEKE-----TDGEQG---P-TVSPAPAD>E<PSS---P--LLSPGCTSSSSAAKLLSPRRT773
KCNH4SITEAE-----SGAEPGGGPRPR-RPLLLP>N<LSP---A--RPR--GSLVSLLGEELPPFSA771
KCNH5KLFQKF-----KQQKELRNQGSTQGDPERN>Q<LQV---E--SRSLQNGASIT-------GTS751
KCNH6H--ELGPQFPSKGYSLLGPGSQNSMG---->-<-AG---P--CAPG-HPDAAP-------PLS787
KCNH7-------------NSTNDPEDSADTIRHYQ>S<SKR---H--FEEKKSRSSSF-------ISS940
KCNH8SIVEDE-----EEEEEGEEEEAVSLSPICT>R<GSS---S--RNKKVGSNKAYLGLSLKQLAS758
CNGA1FARILA-----EYESMQQKLKQRLTKVEKF>L<KP-----LIDTEFSSIEGPG---------A682
CNGA2FGRLLA-----EYTGAQQKLKQRITVLETK>M<KQ-----NNEDDYLSDGMNS---------P656
CNGA3FARLLA-----EYNATQMKMKQRLSQLESQ>V<KG-----GG-DKPLADGEVPG-------DA686
CNGA4FARLLA-----ELESSALKIAYRIERLEWQ>T<REW---PMPEDLAEADDEGE---------P554
CNGB1GAKGGK-----LAHLRARLKELAALEAAAK>Q<QEL---V--EQAKSSQDVKGE-------EG1166
CNGB3----------------ARLLKLKREQAAQK>K<ENSEGGE--EEGKENEDKQKE-------NE724
HCN1HDREMV-----QAIAPINYPQMTTLNSTSS>T<TTP---T--SRMRTQSPPVYT-------AT671
HCN2YDREMV-----QQAELGQRVGLFPPPPPPP>Q<VTS---A--IATLQQAAAMSF-------CP740
HCN3HDRDMA-----RGVRGRAPSTGAQLSGKPV>L<WEP---L--VHAPLQAAAVTS-------NV620
HCN4HDREMA-----HCAHRVQAAASATPTPTPV>I<WTP---L--IQAPLQAAAATT-------SV791
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R922Qc.2765G>A Inherited ArrhythmiaLQTSSIFT: tolerated
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
p.R922Wc.2764C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
Inherited ArrhythmiaLQTS Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
Inherited ArrhythmiaLQTS An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164