Paralogue Annotation for KCNH2 residue 892

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 892
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 892

No paralogue variants have been mapped to residue 892 for KCNH2.



KCNH2---GSTELE--------GGFSRQRKRKLSF>R<RRTDKDT--EQ-----PGEVSALGPGRAGA915
KCNH1---VKREEE--------ERMKRKNEAPLIL>P<PDHPVRRLFQRF-----RQQKEARL-AAER756
KCNH3-----SSLS------------G-------D>-<-NTLMSTLEEKE-----TDGEQG---P-TV741
KCNH4-----FSRS--------PRLSQPRSESLGS>S<SDKTLPSITEAE-----SGAEPGGGPRPR-741
KCNH5---VKKEEE--------ERLRQKNEVTLSI>P<VDHPVRKLFQKF-----KQQKELRNQGSTQ726
KCNH6---HSSPRQ--------APGSQDHQGFFLS>D<NQSGSPH--ELGPQFPSKGYSLLGPGSQNS769
KCNH7RSQSMNDSE--------GDNCKLRRRKLSF>E<SEGEKE-------------NSTNDPEDSAD915
KCNH8-----LSNK--------SMVSQSEPKGNGN>-<INKRLPSIVEDE-----EEEEEGEEEEAVS726
CNGA1---PKDLEE--------K---VTRME--GS>V<DLLQTRFARILA-----EYESMQQKLKQRL659
CNGA2---EVDVQE--------K---LGQLE--TN>M<ETLYTRFGRLLA-----EYTGAQQKLKQRI633
CNGA3---PKDLEE--------K---VEQLG--SS>L<DTLQTRFARLLA-----EYNATQMKMKQRL662
CNGA4---LQEATE--------SR--LRGLD--QQ>L<DDLQTKFARLLA-----ELESSALKIAYRI529
CNGB1-----SVLILPPRAGTPKL--FNAA--LAM>T<GKMGGKGAKGGK-----LAHLRARLKELAA1141
CNGB3-----LALLFPPKEETPKL--FKTL--LGG>T<GKASL-----------------ARLLKLKR696
HCN1-----KDLNT-------GVFNN-Q---ENE>I<LKQIVKHDREMV-----QAIAPINYPQMTT646
HCN2-----HDLNS-------GVFNN-Q---ENA>I<IQEIVKYDREMV-----QQAELGQRVGLFP715
HCN3-----EPSPG-----------S-S---GGI>M<EQHLVQHDRDMA-----RGVRGRAPSTGAQ595
HCN4-----HDLNS-------GVFNY-Q---ENE>I<IQQIVQHDREMA-----HCAHRVQAAASAT766
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R892Cc.2674C>T Other Cardiac PhenotypeSIFT: tolerated
Polyphen: possibly damaging
ReportsOther Cardiac Phenotype Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014 245C:30-37. doi: 10.1016/j.forsciint.2014.10.004. 25447171
p.R892Hc.2675G>A Putative BenignSIFT:
Polyphen:
p.R892Gc.2674C>G Putative BenignSIFT:
Polyphen: