No paralogue variants have been mapped to residue 1890 for SCN5A.
SCN5A | ---EMDALKIQMEEKFMA---ANP-SKISY>E<PITTTLRRKHEEVS----AMVIQRAF-RRH | 1915 |
SCN1A | ---EMDALRIQMEERFMA---SNP-SKVSY>Q<PITTTLKRKQEEVS----AVIIQRAY-RRH | 1929 |
SCN2A | ---EMDALRIQMEERFMA---SNP-SKVSY>E<PITTTLKRKQEEVS----AIIIQRAY-RRY | 1919 |
SCN3A | ---EMDALRIQMEDRFMA---SNP-SKVSY>E<PITTTLKRKQEEVS----AAIIQRNF-RCY | 1914 |
SCN4A | ---EMDALKQTMEEKFMA---ANP-SKVSY>E<PITTTLKRKHEEVC----AIKIQRAY-RRH | 1741 |
SCN7A | ---RMEKVVSEIESGFLL---ANP-FKITC>E<PITTTLKRKQEAVS----ATIIQRAY-KNY | 1639 |
SCN8A | ---ELDILRQQMEERFVA---SNP-SKVSY>E<PITTTLRRKQEEVS----AVVLQRAY-RGH | 1909 |
SCN9A | ---EMDSLRSQMEERFMS---ANP-SKVSY>E<PITTTLKRKQEDVS----ATVIQRAY-RRY | 1892 |
SCN10A | ---ELDSLKANMEEKFMA---TNL-SKSSY>E<PIATTLRWKQEDIS----ATVIQKAY-RSY | 1865 |
SCN11A | ---GLDSMKAMMEEKFME---ANP-LKKLY>E<PIVTTTKRKEEERG----AAIIQKAF-RKY | 1747 |
CACNA1A | GGADKQQMDAELRKEMMAIW-PNL-SQKTL>D<LLVTPHKSTDLTVGKIYAAMMIMEYY-RQS | 1969 |
CACNA1B | AGTKQHQCDAELRKEISVVW-ANL-PQKTL>D<LLVPPHKPDEMTVGKVYAALMIFDFY-KQN | 1868 |
CACNA1C | ---NLEQANEELRAIIKKIW-KRT-SMKLL>D<QVVPPAGDDEVTVGKFYATFLIQEYF-RKF | 1631 |
CACNA1D | ---NLEQANEELRAVIKKIW-KKT-SMKLL>D<QVVPPAGDDEVTVGKFYATFLIQDYF-RKF | 1639 |
CACNA1E | GGADRQQLDSELQKETLAIW-PHL-SQKML>D<LLVPMPKASDLTVGKIYAAMMIMDYY-KQS | 1881 |
CACNA1F | ---NLEQANQELRIVIKKIW-KRM-KQKLL>D<EVIPPPDEEEVTVGKFYATFLIQDYF-RKF | 1596 |
CACNA1G | S--LLIQGSLEWELKLMDEL-AGPGGQPSA>F<PSAPSLGGSDP-----QIPLAEMEAL-SLT | 1987 |
CACNA1H | ----------SVSRML-SLPNDSYM----F>R<PVVPASAPHPR-----PLQEVEMETYGAGT | 1960 |
CACNA1I | ----------EGELTIIDNL-SGSI----F>H<HYSSPAGCKKCHHDKQEVQLAETEAF-SLN | 1859 |
CACNA1S | ---NFEQANEELRAIIKKIW-KRT-SMKLL>D<QVIPPIGDDEVTVGKFYATFLIQEHF-RKF | 1536 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1890K | c.5668G>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |