Paralogue Annotation for KCNH2 residue 1003

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1003
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1003

No paralogue variants have been mapped to residue 1003 for KCNH2.



KCNH2FS-------------------------FWG>D<S---R----G--------------------1006
KCNH1AR-------------------------FKD>A<C---G-------------------------845
KCNH3ED-------------------------GCG>S<D---Q-------------------------836
KCNH4ED-------------------------SGS>T<A---E----A--------------------840
KCNH5LR-------------------------LKN>N<M---G----A--------------------820
KCNH6LQ-------------------------LLQ>K<P---M----P--------------------856
KCNH7HP-------------------------QPE>D<S---S----P--------------------1009
KCNH8ED-------------------------GNS>S<E---E----S--------------------826
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1---------------------------TDP>P<A-----------------------------1185
CNGB3---------------------------EDK>D<K-----------------------------742
HCN1--------------------------QQPQ>-<-------------------QQ---------737
HCN2----------------------------PG>-<-------------------A-P--------784
HCN3--------------------------RLPA>-<-------------------PP---------675
HCN4GQLGQPPGELSLGLATGPLSTPETPPRQPE>P<PSLVAGASGGASPVGFTPRGGLSPPGHSPG1033
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1003Nc.3007G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2016 37(18):1456-64. doi: 10.1093/eurheartj/ehv695. 26715165
p.Asp1003Tyrc.3007G>T UnknownSIFT:
Polyphen: