Paralogue Annotation for KCNH2 residue 895

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 895
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 895

No paralogue variants have been mapped to residue 895 for KCNH2.



KCNH2GSTELE--------GGFSRQRKRKLSFRRR>T<DKDT--EQ-----PGEVSALGPGRAGAGPS918
KCNH1VKREEE--------ERMKRKNEAPLILPPD>H<PVRRLFQRF-----RQQKEARL-AAERGGR759
KCNH3--SSLS------------G-------D--N>T<LMSTLEEKE-----TDGEQG---P-TVSPA744
KCNH4--FSRS--------PRLSQPRSESLGSSSD>K<TLPSITEAE-----SGAEPGGGPRPR-RPL744
KCNH5VKKEEE--------ERLRQKNEVTLSIPVD>H<PVRKLFQKF-----KQQKELRNQGSTQGDP729
KCNH6HSSPRQ--------APGSQDHQGFFLSDNQ>S<GSPH--ELGPQFPSKGYSLLGPGSQNSMG-771
KCNH7SMNDSE--------GDNCKLRRRKLSFESE>G<EKE-------------NSTNDPEDSADTIR918
KCNH8--LSNK--------SMVSQSEPKGNGN-IN>K<RLPSIVEDE-----EEEEEGEEEEAVSLSP729
CNGA1PKDLEE--------K---VTRME--GSVDL>L<QTRFARILA-----EYESMQQKLKQRLTKV662
CNGA2EVDVQE--------K---LGQLE--TNMET>L<YTRFGRLLA-----EYTGAQQKLKQRITVL636
CNGA3PKDLEE--------K---VEQLG--SSLDT>L<QTRFARLLA-----EYNATQMKMKQRLSQL665
CNGA4LQEATE--------SR--LRGLD--QQLDD>L<QTKFARLLA-----ELESSALKIAYRIERL532
CNGB1--SVLILPPRAGTPKL--FNAA--LAMTGK>M<GGKGAKGGK-----LAHLRARLKELAALEA1144
CNGB3--LALLFPPKEETPKL--FKTL--LGGTGK>A<SL-----------------ARLLKLKREQA699
HCN1--KDLNT-------GVFNN-Q---ENEILK>Q<IVKHDREMV-----QAIAPINYPQMTTLNS649
HCN2--HDLNS-------GVFNN-Q---ENAIIQ>E<IVKYDREMV-----QQAELGQRVGLFPPPP718
HCN3--EPSPG-----------S-S---GGIMEQ>H<LVQHDRDMA-----RGVRGRAPSTGAQLSG598
HCN4--HDLNS-------GVFNY-Q---ENEIIQ>Q<IVQHDREMA-----HCAHRVQAAASATPTP769
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T895Mc.2684C>T Inherited ArrhythmiaSIFT: tolerated
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570
Other Cardiac Phenotype An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991
Inherited ArrhythmiaAF Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2015 26129877
Inherited ArrhythmiaAF Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2015 26129877
Other Cardiac Phenotype Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594