Paralogue Annotation for KCNH2 residue 1049

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1049
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1049

No paralogue variants have been mapped to residue 1049 for KCNH2.



KCNH2----IPL-SSPGRRPRGDV-ESRLDALQRQ>L<NRLETRLSADMATVLQ--------------1065
KCNH1----TLP-E------RTKA-S-----GEAT>L<KKTDSCDSGITKSDLR--------------890
KCNH3PSPGPES-G----LLTVPH-GPSEARNTDT>L<DKLRQAVTELSEQVLQ--------------894
KCNH4----PPT-GTRP-SPELAS-EAEEVK--EK>V<CRLNQEISRLNQEVSQ--------------896
KCNH5----LLS-EDPKSSDSENS-V-----TKNP>L<RKTDSCDSGITKSDLR--------------874
KCNH6----VPI-ASETTSPGPRL-P------QGF>L<PPAQTPSYGDLDDCSP--------------909
KCNH7----------ESDLTYGEV-EQRLDLLQEQ>L<NRLESQMTTDIQTILQ--------------1058
KCNH8-----PLGDPEIGAAVLFI-KAEETK--QQ>I<NKLNSEVTTLTQEVSQ--------------883
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1-----SP-PSSPPPAS-------------->-<------------------------------1204
CNGB3-----PI-AVEEEPHS-------------->-<------------------------------769
HCN1PQTPG---S--STPKNEVH-KSTQALHNTN>L<TREVRPLSASQPSLPHEVSTLISRPHPTVG809
HCN2-----------PYGGLPAAPLAGPALPARR>L<SRASRPLSASQPSLPHGAPGPAASTRPAS-842
HCN3--PP---------P----------GGGGRR>L<GPRGRPLSASQPSLPQRATGDGSPGRKGS-734
HCN4--PPASS-P--PPPQVPQR-RGTPPLTPGR>L<TQDLKLISASQPALPQDGAQTLRRASPHSS1109
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1049Pc.3146T>C Inherited ArrhythmiaLQTSrs199473026SIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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 Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810