No paralogue variants have been mapped to residue 319 for CACNA1C.
CACNA1C | --------------------D--DPSPCAL>E<TGHGRQ-CQN-GTVCKPGWDGPKHGITNFD | 347 |
CACNA1A | --------------------E--SPAPCGT>E<EPA-RT-C-PNGTKCQPYWEGPNNGITQFD | 302 |
CACNA1B | --------------------V--GDFPCGK>E<APA-RL-C-EGDTECREYWPGPNFGITNFD | 298 |
CACNA1D | --------------------E--DPAPCAF>S<GNGR-Q-CTANGTECRSGWVGPNGGITNFD | 348 |
CACNA1E | --------------------D--PPHPCGV>Q<G------C-PAGYEC-KDWIGPNDGITQFD | 293 |
CACNA1F | --------------------E--DPSPCAS>S<GSGR-A-CTLNQTECRGRWPGPNGGITNFD | 314 |
CACNA1G | ---GGGGPPCG-LDYEAYNS---------S>S<NTTC-VNWNQYYTNCSAGEHNPFKGAINFD | 338 |
CACNA1H | -----LRMPCT-LGWEAYTQP--QAEGVGA>A<RNAC-INWNQYYNVCRSGDSNPHNGAINFD | 362 |
CACNA1I | -----QGRECCLSKDDVYDFG--AGRQDLN>A<SGLC-VNWNRYYNVCRTGSANPHKGAINFD | 341 |
CACNA1S | --------------------E--EPSPCAR>T<GSGR-R-CTINGSECRGGWPGPNHGITHFD | 276 |
SCN10A | -----S-SHRK-PDIYINKRGTSDPLLCGN>G<SDSG-H-C-PDGYICLKTSDNPDFNYTSFD | 340 |
SCN11A | ----PE---AY-DHCFEKKENSPEFKMCGI>W<MGNS-A-C-SIQYECKHTKINPDYNYTNFD | 343 |
SCN1A | ---DWKSYIQD-SRYHYFLEGFLDALLCGN>S<SDAG-Q-C-PEGYMCVKAGRNPNYGYTSFD | 366 |
SCN2A | ---NWDEYIED-KSHFYFLEGQNDALLCGN>S<SDAG-Q-C-PEGYICVKAGRNPNYGYTSFD | 368 |
SCN3A | ---NWKDYIGD-DSHFYVLDGQKDPLLCGN>G<SDAG-Q-C-PEGYICVKAGRNPNYGYTSFD | 367 |
SCN4A | ---DWDAYISD-EGNFYFLEGSNDALLCGN>S<SDAG-H-C-PEGYECIKTGRNPNYGYTSYD | 390 |
SCN5A | VWESLDLYLSD-PENYLLKNGTSDVLLCGN>S<SDAG-T-C-PEGYRCLKAGENPDHGYTSFD | 356 |
SCN7A | ----NPYYIRE-TENFYYLEGERYALLCGN>R<TDAG-Q-C-PEGYVCVKAGINPDQGFTNFD | 337 |
SCN8A | ---DWEEYINN-KTNFYTVPGMLEPLLCGN>S<SDAG-Q-C-PEGYQCMKAGRNPNYGYTSFD | 354 |
SCN9A | ---SEEDF----RKYFYYLEGSKDALLCGF>S<TDSG-Q-C-PEGYTCVKIGRNPDYGYTSFD | 345 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E319V | c.956A>T | Putative Benign | SIFT: Polyphen: |