Paralogue Annotation for KCNH2 residue 1058

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1058
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1058

No paralogue variants have been mapped to residue 1058 for KCNH2.



KCNH2SPGRRPRGDV-ESRLDALQRQLNRLETRLS>A<DMATVLQ--------------LLQRQMTLV1074
KCNH1------RTKA-S-----GEATLKKTDSCDS>G<ITKSDLR--------------LDNVGEARS899
KCNH3----LLTVPH-GPSEARNTDTLDKLRQAVT>E<LSEQVLQ--------------MREGLQSLR903
KCNH4TRP-SPELAS-EAEEVK--EKVCRLNQEIS>R<LNQEVSQ--------------LSRELRHIM905
KCNH5DPKSSDSENS-V-----TKNPLRKTDSCDS>G<ITKSDLR--------------LDKAGEARS883
KCNH6SETTSPGPRL-P------QGFLPPAQTPSY>G<DLDDCSP--------------KHRNSSPRM918
KCNH7-ESDLTYGEV-EQRLDLLQEQLNRLESQMT>T<DIQTILQ--------------LLQKQTTVV1067
KCNH8PEIGAAVLFI-KAEETK--QQINKLNSEVT>T<LTQEVSQ--------------LGKDMRNVI892
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1SSPPPAS----------------------->-<------------------------------1204
CNGB3VEEEPHS----------------------->-<------------------------------769
HCN1--STPKNEVH-KSTQALHNTNLTREVRPLS>A<SQPSLPHEVSTLISRPHPTVG----ESLAS814
HCN2--PYGGLPAAPLAGPALPARRLSRASRPLS>A<SQPSLPHGAPGPAASTRPAS----------842
HCN3----P----------GGGGRRLGPRGRPLS>A<SQPSLPQRATGDGSPGRKGS----------734
HCN4--PPPQVPQR-RGTPPLTPGRLTQDLKLIS>A<SQPALPQDGAQTLRRASPHSSGESMAAFPL1118
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1058Ec.3173C>A Putative BenignSIFT: tolerated
Polyphen: benign
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
p.A1058Tc.3172G>A Putative BenignSIFT: tolerated
Polyphen: benign