Paralogue Annotation for KCNH2 residue 883

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 883
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 883

No paralogue variants have been mapped to residue 883 for KCNH2.



KCNH2NM-IP-GSP---GSTELE--------GGFS>R<QRKRKLSFRRRTDKDT--EQ-----PGEVS906
KCNH1IV-FRKISD---VKREEE--------ERMK>R<KNEAPLILPPDHPVRRLFQRF-----RQQK748
KCNH3GG-SAEVDT-----SSLS------------>G<-------D--NTLMSTLEEKE-----TDGE736
KCNH4SD-TSGLSR-----FSRS--------PRLS>Q<PRSESLGSSSDKTLPSITEAE-----SGAE733
KCNH5II-FRKISD---VKKEEE--------ERLR>Q<KNEVTLSIPVDHPVRKLFQKF-----KQQK717
KCNH6AG-GL-------HSSPRQ--------APGS>Q<DHQGFFLSDNQSGSPH--ELGPQFPSKGYS760
KCNH7SA-KA-DLLRSQSMNDSE--------GDNC>K<LRRRKLSFESEGEKE-------------NS906
KCNH8HE-SDVISR-----LSNK--------SMVS>Q<SEPKGNGN-INKRLPSIVEDE-----EEEE717
CNGA1NI-ANAGSD---PKDLEE--------K--->V<TRME--GSVDLLQTRFARILA-----EYES650
CNGA2NE-VATS-M---EVDVQE--------K--->L<GQLE--TNMETLYTRFGRLLA-----EYTG624
CNGA3EL-ARAGAD---PKDLEE--------K--->V<EQLG--SSLDTLQTRFARLLA-----EYNA653
CNGA4NA-EAAEIA---LQEATE--------SR-->L<RGLD--QQLDDLQTKFARLLA-----ELES520
CNGB1-----EE-K-----SVLILPPRAGTPKL-->F<NAA--LAMTGKMGGKGAKGGK-----LAHL1132
CNGB3EATPPRK-D-----LALLFPPKEETPKL-->F<KTL--LGGTGKASL----------------688
HCN1IL-LQKFQ------KDLNT-------GVFN>N<-Q---ENEILKQIVKHDREMV-----QAIA637
HCN2IL-LHKVQ------HDLNS-------GVFN>N<-Q---ENAIIQEIVKYDREMV-----QQAE706
HCN3IL-QRKRS------EPSPG----------->S<-S---GGIMEQHLVQHDRDMA-----RGVR586
HCN4IL-LHKVQ------HDLNS-------GVFN>Y<-Q---ENEIIQQIVQHDREMA-----HCAH757
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R883Wc.2647C>T Putative BenignSIFT: tolerated
Polyphen: probably damaging
p.R883Qc.2648G>A Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661
p.R883Gc.2647C>G Putative BenignSIFT:
Polyphen: