Paralogue Annotation for KCNH2 residue 885

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 885
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 885

No paralogue variants have been mapped to residue 885 for KCNH2.



KCNH2-IP-GSP---GSTELE--------GGFSRQ>R<KRKLSFRRRTDKDT--EQ-----PGEVSAL908
KCNH1-FRKISD---VKREEE--------ERMKRK>N<EAPLILPPDHPVRRLFQRF-----RQQKEA750
KCNH3-SAEVDT-----SSLS------------G->-<-----D--NTLMSTLEEKE-----TDGEQG738
KCNH4-TSGLSR-----FSRS--------PRLSQP>R<SESLGSSSDKTLPSITEAE-----SGAEPG735
KCNH5-FRKISD---VKKEEE--------ERLRQK>N<EVTLSIPVDHPVRKLFQKF-----KQQKEL719
KCNH6-GL-------HSSPRQ--------APGSQD>H<QGFFLSDNQSGSPH--ELGPQFPSKGYSLL762
KCNH7-KA-DLLRSQSMNDSE--------GDNCKL>R<RRKLSFESEGEKE-------------NSTN908
KCNH8-SDVISR-----LSNK--------SMVSQS>E<PKGNGN-INKRLPSIVEDE-----EEEEEG719
CNGA1-ANAGSD---PKDLEE--------K---VT>R<ME--GSVDLLQTRFARILA-----EYESMQ652
CNGA2-VATS-M---EVDVQE--------K---LG>Q<LE--TNMETLYTRFGRLLA-----EYTGAQ626
CNGA3-ARAGAD---PKDLEE--------K---VE>Q<LG--SSLDTLQTRFARLLA-----EYNATQ655
CNGA4-EAAEIA---LQEATE--------SR--LR>G<LD--QQLDDLQTKFARLLA-----ELESSA522
CNGB1---EE-K-----SVLILPPRAGTPKL--FN>A<A--LAMTGKMGGKGAKGGK-----LAHLRA1134
CNGB3TPPRK-D-----LALLFPPKEETPKL--FK>T<L--LGGTGKASL-----------------A689
HCN1-LQKFQ------KDLNT-------GVFNN->Q<---ENEILKQIVKHDREMV-----QAIAPI639
HCN2-LHKVQ------HDLNS-------GVFNN->Q<---ENAIIQEIVKYDREMV-----QQAELG708
HCN3-QRKRS------EPSPG-----------S->S<---GGIMEQHLVQHDRDMA-----RGVRGR588
HCN4-LHKVQ------HDLNS-------GVFNY->Q<---ENEIIQQIVQHDREMA-----HCAHRV759
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R885Cc.2653C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS [DNA-based diagnostics of long QT syndrome]. Tidsskr Nor Laegeforen. 2005 125(20):2783-6. 16244680
Inherited ArrhythmiaLQTS Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
Inherited ArrhythmiaLQTS Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142
Inherited 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
Inherited ArrhythmiaLQTS High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279
Inherited ArrhythmiaLQTS Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283
Inherited ArrhythmiaLQTS Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.R885Hc.2654G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430
p.R885Pc.2654G>C Putative BenignSIFT:
Polyphen:
p.R885Sc.2653C>A Putative BenignSIFT:
Polyphen: