No paralogue variants have been mapped to residue 1864 for SCN5A.
SCN5A | LINMDLPMVSGD-RIHCMDILFAFTKRVLG>E<S--G---EMDALKIQMEEKFMA---ANP-S | 1885 |
SCN1A | LIAMDLPMVSGD-RIHCLDILFAFTKRVLG>E<S--G---EMDALRIQMEERFMA---SNP-S | 1899 |
SCN2A | LIAMDLPMVSGD-RIHCLDILFAFTKRVLG>E<S--G---EMDALRIQMEERFMA---SNP-S | 1889 |
SCN3A | LIAMDLPMVSGD-RIHCLDILFAFTKRVLG>E<S--G---EMDALRIQMEDRFMA---SNP-S | 1884 |
SCN4A | LITLDLPMVPGD-KIHCLDILFALTKEVLG>D<S--G---EMDALKQTMEEKFMA---ANP-S | 1711 |
SCN7A | LIALDLPMAVGD-RIHCLDILLAFTKRVMG>Q<D--V---RMEKVVSEIESGFLL---ANP-F | 1609 |
SCN8A | LIAMDLPMVSGD-RIHCLDILFAFTKRVLG>D<S--G---ELDILRQQMEERFVA---SNP-S | 1879 |
SCN9A | LIAMDLPMVSGD-RIHCLDILFAFTKRVLG>E<S--G---EMDSLRSQMEERFMS---ANP-S | 1862 |
SCN10A | LIQMDLPLVPGD-KIHCLDILFAFTKNVLG>E<S--G---ELDSLKANMEEKFMA---TNL-S | 1835 |
SCN11A | FLVMDLPMVSED-RLHCMDILFAFTARVLG>G<S--D---GLDSMKAMMEEKFME---ANP-L | 1717 |
CACNA1A | LLRMDLPVADD-NTVHFNSTLMALIRTALD>I<KIAKGGADKQQMDAELRKEMMAIW-PNL-S | 1935 |
CACNA1B | LVRMNMPISNEDMTVHFTSTLMALIRTALE>I<KLAPAGTKQHQCDAELRKEISVVW-ANL-P | 1834 |
CACNA1C | LVSMNMPLNSDG-TVMFNATLFALVRTALR>I<KTEG---NLEQANEELRAIIKKIW-KRT-S | 1597 |
CACNA1D | LVAMNMPLNSDG-TVMFNATLFALVRTALK>I<KTEG---NLEQANEELRAVIKKIW-KKT-S | 1605 |
CACNA1E | LVLMNMPVAED-MTVHFTSTLMALIRTALD>I<KIAKGGADRQQLDSELQKETLAIW-PHL-S | 1847 |
CACNA1F | LVAMNMPLNSDG-TVTFNATLFALVRTSLK>I<KTEG---NLEQANQELRIVIKKIW-KRM-K | 1562 |
CACNA1G | -----HPAAHA-RSASHFSLEHPTDRQLFD>T<I---S--LLIQGSLEWELKLMDEL-AGPGG | 1958 |
CACNA1H | ----DAPN---------------LVARKV->-<--------------SVSRML-SLPNDSYM- | 1933 |
CACNA1I | LCRRCYSPAQE-N--LWLDSVSLIIKDSL->-<--------------EGELTIIDNL-SGSI- | 1828 |
CACNA1S | LVGMNMPLNSDG-TVTFNATLFALVRTALK>I<KTEG---NFEQANEELRAIIKKIW-KRT-S | 1502 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu1864Asp | c.5592G>T | Unknown | SIFT: Polyphen: |