No paralogue variants have been mapped to residue 1986 for SCN5A.
SCN5A | -------------------------RA-TS>D<N-LQVRG----------------------- | 1992 |
SCN1A | -------------------------KP-IV>E<K-HE-------------------------- | 1998 |
SCN2A | -------------------------KP-EK>E<K-FE-------------------------- | 1987 |
SCN3A | -------------------------KP-DK>E<K-FE-------------------------- | 1982 |
SCN4A | -------------------------IS-PS>D<TAWP-------------------------- | 1818 |
SCN7A | ------------------------------>-<K----------------------------- | 1675 |
SCN8A | -------------------------KP-EK>E<K-QQRAE----------------------- | 1962 |
SCN9A | -------------------------KP-DK>E<K-YE-------------------------- | 1959 |
SCN10A | -------------------------RG-LS>D<R-VNMRT----------------------- | 1936 |
SCN11A | -------------------------SF-GV>A<K----------------------------- | 1785 |
CACNA1A | ----------GTDLSMTTQSGDLP------>S<K-ERDQERGRPKDR---------------- | 2206 |
CACNA1B | ----------SSAVGPGLPPGEGPTGC-RR>E<R-ERRQERGRSQERRQPSSSSS----EKQR | 2127 |
CACNA1C | --TLPEEDKRDIRQSPKRGFLRSA-SL-GR>-<R-ASFHLECLKRQKDRGGDIS-----Q--- | 1916 |
CACNA1D | LEDDDSPVCYDSRRSPRRRLLPPT-PASHR>-<R-SSFNFECLRRQSSQEEVPSSPIFPH--- | 1965 |
CACNA1E | ----------KSDT---------------->H<R-SGGRERGRSKERKHLLSPDV----SRCN | 2101 |
CACNA1F | --PHRAQRYMDGHLVPRRRLLPPT-PA-GR>-<K-PSFTIQCLQRQGSCEDLPIPGTY----- | 1823 |
CACNA1G | --HSR------SHSKISKHMTPPA-PCPGP>-<E-PNWGKGPPETRSSLELDTE--------- | 2220 |
CACNA1H | -----------------------G-PEASP>-<V-AGGE------------------------ | 2129 |
CACNA1I | ----------------RRALGPPA-PAPGP>-<R-AGLS------------------------ | 2060 |
CACNA1S | ------------PATRGRALGQPCRVL-GP>-<H-SKPCVEMLKG------------------ | 1724 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1986N | c.5956G>A | Putative Benign | SIFT: Polyphen: |