No paralogue variants have been mapped to residue 1887 for SCN5A.
SCN5A | --G---EMDALKIQMEEKFMA---ANP-SK>I<SYEPITTTLRRKHEEVS----AMVIQRAF- | 1912 |
SCN1A | --G---EMDALRIQMEERFMA---SNP-SK>V<SYQPITTTLKRKQEEVS----AVIIQRAY- | 1926 |
SCN2A | --G---EMDALRIQMEERFMA---SNP-SK>V<SYEPITTTLKRKQEEVS----AIIIQRAY- | 1916 |
SCN3A | --G---EMDALRIQMEDRFMA---SNP-SK>V<SYEPITTTLKRKQEEVS----AAIIQRNF- | 1911 |
SCN4A | --G---EMDALKQTMEEKFMA---ANP-SK>V<SYEPITTTLKRKHEEVC----AIKIQRAY- | 1738 |
SCN7A | --V---RMEKVVSEIESGFLL---ANP-FK>I<TCEPITTTLKRKQEAVS----ATIIQRAY- | 1636 |
SCN8A | --G---ELDILRQQMEERFVA---SNP-SK>V<SYEPITTTLRRKQEEVS----AVVLQRAY- | 1906 |
SCN9A | --G---EMDSLRSQMEERFMS---ANP-SK>V<SYEPITTTLKRKQEDVS----ATVIQRAY- | 1889 |
SCN10A | --G---ELDSLKANMEEKFMA---TNL-SK>S<SYEPIATTLRWKQEDIS----ATVIQKAY- | 1862 |
SCN11A | --D---GLDSMKAMMEEKFME---ANP-LK>K<LYEPIVTTTKRKEEERG----AAIIQKAF- | 1744 |
CACNA1A | IAKGGADKQQMDAELRKEMMAIW-PNL-SQ>K<TLDLLVTPHKSTDLTVGKIYAAMMIMEYY- | 1966 |
CACNA1B | LAPAGTKQHQCDAELRKEISVVW-ANL-PQ>K<TLDLLVPPHKPDEMTVGKVYAALMIFDFY- | 1865 |
CACNA1C | TEG---NLEQANEELRAIIKKIW-KRT-SM>K<LLDQVVPPAGDDEVTVGKFYATFLIQEYF- | 1628 |
CACNA1D | TEG---NLEQANEELRAVIKKIW-KKT-SM>K<LLDQVVPPAGDDEVTVGKFYATFLIQDYF- | 1636 |
CACNA1E | IAKGGADRQQLDSELQKETLAIW-PHL-SQ>K<MLDLLVPMPKASDLTVGKIYAAMMIMDYY- | 1878 |
CACNA1F | TEG---NLEQANQELRIVIKKIW-KRM-KQ>K<LLDEVIPPPDEEEVTVGKFYATFLIQDYF- | 1593 |
CACNA1G | ---S--LLIQGSLEWELKLMDEL-AGPGGQ>P<SAFPSAPSLGGSDP-----QIPLAEMEAL- | 1984 |
CACNA1H | -------------SVSRML-SLPNDSYM-->-<-FRPVVPASAPHPR-----PLQEVEMETYG | 1957 |
CACNA1I | -------------EGELTIIDNL-SGSI-->-<-FHHYSSPAGCKKCHHDKQEVQLAETEAF- | 1856 |
CACNA1S | TEG---NFEQANEELRAIIKKIW-KRT-SM>K<LLDQVIPPIGDDEVTVGKFYATFLIQEHF- | 1533 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1887F | c.5659A>T | Cardiomyopathy | HCM | SIFT: Polyphen: | |
Reports | Cardiomyopathy | HCM | Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene. 2016 577(2):227-35. doi: 10.1016/j.gene.2015.11.048. 26656175 |