No paralogue variants have been mapped to residue 1058 for KCNH2.
| KCNH2 | SPGRRPRGDV-ESRLDALQRQLNRLETRLS>A<DMATVLQ--------------LLQRQMTLV | 1074 |
| KCNH1 | ------RTKA-S-----GEATLKKTDSCDS>G<ITKSDLR--------------LDNVGEARS | 899 |
| KCNH3 | ----LLTVPH-GPSEARNTDTLDKLRQAVT>E<LSEQVLQ--------------MREGLQSLR | 903 |
| KCNH4 | TRP-SPELAS-EAEEVK--EKVCRLNQEIS>R<LNQEVSQ--------------LSRELRHIM | 905 |
| KCNH5 | DPKSSDSENS-V-----TKNPLRKTDSCDS>G<ITKSDLR--------------LDKAGEARS | 883 |
| KCNH6 | SETTSPGPRL-P------QGFLPPAQTPSY>G<DLDDCSP--------------KHRNSSPRM | 918 |
| KCNH7 | -ESDLTYGEV-EQRLDLLQEQLNRLESQMT>T<DIQTILQ--------------LLQKQTTVV | 1067 |
| KCNH8 | PEIGAAVLFI-KAEETK--QQINKLNSEVT>T<LTQEVSQ--------------LGKDMRNVI | 892 |
| CNGA1 | ------------------------------>-<------------------------------ | |
| CNGA2 | ------------------------------>-<------------------------------ | |
| CNGA3 | ------------------------------>-<------------------------------ | |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | SSPPPAS----------------------->-<------------------------------ | 1204 |
| CNGB3 | VEEEPHS----------------------->-<------------------------------ | 769 |
| HCN1 | --STPKNEVH-KSTQALHNTNLTREVRPLS>A<SQPSLPHEVSTLISRPHPTVG----ESLAS | 814 |
| HCN2 | --PYGGLPAAPLAGPALPARRLSRASRPLS>A<SQPSLPHGAPGPAASTRPAS---------- | 842 |
| HCN3 | ----P----------GGGGRRLGPRGRPLS>A<SQPSLPQRATGDGSPGRKGS---------- | 734 |
| HCN4 | --PPPQVPQR-RGTPPLTPGRLTQDLKLIS>A<SQPALPQDGAQTLRRASPHSSGESMAAFPL | 1118 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1058E | c.3173C>A | Putative Benign | rs41313752 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative 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.A1058T | c.3172G>A | Putative Benign | SIFT: tolerated Polyphen: benign | ||