No paralogue variants have been mapped to residue 1982 for SCN5A.
SCN5A | ------------------------------>R<A-TSDN-LQVRG------------------ | 1992 |
SCN1A | ------------------------------>K<P-IVEK-HE--------------------- | 1998 |
SCN2A | ------------------------------>K<P-EKEK-FE--------------------- | 1987 |
SCN3A | ------------------------------>K<P-DKEK-FE--------------------- | 1982 |
SCN4A | ------------------------------>I<S-PSDTAWP--------------------- | 1818 |
SCN7A | ------------------------------>-<-----K------------------------ | 1675 |
SCN8A | ------------------------------>K<P-EKEK-QQRAE------------------ | 1962 |
SCN9A | ------------------------------>K<P-DKEK-YE--------------------- | 1959 |
SCN10A | ------------------------------>R<G-LSDR-VNMRT------------------ | 1936 |
SCN11A | ------------------------------>S<F-GVAK------------------------ | 1785 |
CACNA1A | ---------------GTDLSMTTQSGDLP->-<----SK-ERDQERGRPKDR----------- | 2206 |
CACNA1B | ---------------SSAVGPGLPPGEGPT>G<C-RRER-ERRQERGRSQERRQPSSSSS--- | 2123 |
CACNA1C | -------TLPEEDKRDIRQSPKRGFLRSA->S<L-GR-R-ASFHLECLKRQKDRGGDIS---- | 1915 |
CACNA1D | HPQGFLEDDDSPVCYDSRRSPRRRLLPPT->P<ASHR-R-SSFNFECLRRQSSQEEVPSSPIF | 1963 |
CACNA1E | ---------------KSDT----------->-<----HR-SGGRERGRSKERKHLLSPDV--- | 2097 |
CACNA1F | -------PHRAQRYMDGHLVPRRRLLPPT->P<A-GR-K-PSFTIQCLQRQGSCEDLPIPGTY | 1823 |
CACNA1G | -------HSR------SHSKISKHMTPPA->P<CPGP-E-PNWGKGPPETRSSLELDTE---- | 2220 |
CACNA1H | ----------------------------G->P<EASP-V-AGGE------------------- | 2129 |
CACNA1I | ---------------------RRALGPPA->P<APGP-R-AGLS------------------- | 2060 |
CACNA1S | -----------------PATRGRALGQPCR>V<L-GP-H-SKPCVEMLKG------------- | 1724 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1982T | c.5945G>C | Putative Benign | SIFT: Polyphen: | ||
p.Arg1982Ile | c.5945G>T | Unknown | SIFT: Polyphen: |