Paralogue Annotation for KCNH2 residue 1078

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1078
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1078

No paralogue variants have been mapped to residue 1078 for KCNH2.



KCNH2TVLQ--------------LLQRQMTLVPPA>Y<SAVTTP------------------------1084
KCNH1SDLR--------------LDNVGEARSPQD>R<SPILAEVKHSF-------------YPIPEQ920
KCNH3QVLQ--------------MREGLQSLRQAV>Q<LVLAPHREGP-------------CPRAS--922
KCNH4EVSQ--------------LSRELRHIMGLL>Q<ARLGPP------------------GHPAGS921
KCNH5SDLR--------------LDKAGEARSPLE>H<SPIQADAKHPF-------------YPIPEQ904
KCNH6DCSP--------------KHRNSSPRMP-->H<LAVATD------------------------926
KCNH7TILQ--------------LLQKQTTVVPPA>Y<SMVTAGSEYQR-------------PIIQLM1088
KCNH8EVSQ--------------LGKDMRNVIQLL>E<NVLSPQQPSRFCSLHSTSVCPSRESLQTRT926
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------------------------------>-<-----------------------------L1205
CNGB3------------------------------>-<-----------------------------V770
HCN1SLPHEVSTLISRPHPTVG----ESLASIPQ>P<VTAVPGTGLQ-----------------AG-830
HCN2SLPHGAPGPAASTRPAS------------->-<------------------------------842
HCN3SLPQRATGDGSPGRKGS------------->-<------------------------------734
HCN4ALPQDGAQTLRRASPHSSGESMAAFPLFPR>A<GGGSGGSGS---------------------1131
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y1078Cc.3233A>G Inherited ArrhythmiaLQTSrs199473029SIFT: 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