Paralogue Annotation for KCNH2 residue 1068

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1068
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1068

No paralogue variants have been mapped to residue 1068 for KCNH2.



KCNH2LETRLSADMATVLQ--------------LL>Q<RQMTLVPPAYSAVTTP--------------1084
KCNH1TDSCDSGITKSDLR--------------LD>N<VGEARSPQDRSPILAEVKHSF---------914
KCNH3LRQAVTELSEQVLQ--------------MR>E<GLQSLRQAVQLVLAPHREGP----------917
KCNH4LNQEISRLNQEVSQ--------------LS>R<ELRHIMGLLQARLGPP--------------915
KCNH5TDSCDSGITKSDLR--------------LD>K<AGEARSPLEHSPIQADAKHPF---------898
KCNH6AQTPSYGDLDDCSP--------------KH>R<NSSPRMP--HLAVATD--------------926
KCNH7LESQMTTDIQTILQ--------------LL>Q<KQTTVVPPAYSMVTAGSEYQR---------1082
KCNH8LNSEVTTLTQEVSQ--------------LG>K<DMRNVIQLLENVLSPQQPSRFCSLHSTSVC916
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------------------------------>-<------------------------------
CNGB3------------------------------>-<------------------------------
HCN1EVRPLSASQPSLPHEVSTLISRPHPTVG-->-<-ESLASIPQPVTAVPGTGLQ----------828
HCN2ASRPLSASQPSLPHGAPGPAASTRPAS--->-<------------------------------842
HCN3RGRPLSASQPSLPQRATGDGSPGRKGS--->-<------------------------------734
HCN4DLKLISASQPALPQDGAQTLRRASPHSSGE>S<MAAFPLFPRAGGGSGGSGS-----------1131
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1068Rc.3203A>G Putative Benignrs151031345SIFT: deleterious
Polyphen: possibly damaging
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300