No paralogue variants have been mapped to residue 1984 for SCN5A.
SCN5A | ---------------------------RA->T<SDN-LQVRG--------------------- | 1992 |
SCN1A | ---------------------------KP->I<VEK-HE------------------------ | 1998 |
SCN2A | ---------------------------KP->E<KEK-FE------------------------ | 1987 |
SCN3A | ---------------------------KP->D<KEK-FE------------------------ | 1982 |
SCN4A | ---------------------------IS->P<SDTAWP------------------------ | 1818 |
SCN7A | ------------------------------>-<--K--------------------------- | 1675 |
SCN8A | ---------------------------KP->E<KEK-QQRAE--------------------- | 1962 |
SCN9A | ---------------------------KP->D<KEK-YE------------------------ | 1959 |
SCN10A | ---------------------------RG->L<SDR-VNMRT--------------------- | 1936 |
SCN11A | ---------------------------SF->G<VAK--------------------------- | 1785 |
CACNA1A | ------------GTDLSMTTQSGDLP---->-<-SK-ERDQERGRPKDR-------------- | 2206 |
CACNA1B | ------------SSAVGPGLPPGEGPTGC->R<RER-ERRQERGRSQERRQPSSSSS----EK | 2125 |
CACNA1C | ----TLPEEDKRDIRQSPKRGFLRSA-SL->G<R-R-ASFHLECLKRQKDRGGDIS-----Q- | 1916 |
CACNA1D | GFLEDDDSPVCYDSRRSPRRRLLPPT-PAS>H<R-R-SSFNFECLRRQSSQEEVPSSPIFPH- | 1965 |
CACNA1E | ------------KSDT-------------->-<-HR-SGGRERGRSKERKHLLSPDV----SR | 2099 |
CACNA1F | ----PHRAQRYMDGHLVPRRRLLPPT-PA->G<R-K-PSFTIQCLQRQGSCEDLPIPGTY--- | 1823 |
CACNA1G | ----HSR------SHSKISKHMTPPA-PCP>G<P-E-PNWGKGPPETRSSLELDTE------- | 2220 |
CACNA1H | -------------------------G-PEA>S<P-V-AGGE---------------------- | 2129 |
CACNA1I | ------------------RRALGPPA-PAP>G<P-R-AGLS---------------------- | 2060 |
CACNA1S | --------------PATRGRALGQPCRVL->G<P-H-SKPCVEMLKG---------------- | 1724 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1984I | c.5951C>T | Putative Benign | SIFT: Polyphen: |