No paralogue variants have been mapped to residue 318 for CACNA1C.
CACNA1C | ---------------------D--DPSPCA>L<ETGHGRQ-CQN-GTVCKPGWDGPKHGITNF | 346 |
CACNA1A | ---------------------E--SPAPCG>T<EEPA-RT-C-PNGTKCQPYWEGPNNGITQF | 301 |
CACNA1B | ---------------------V--GDFPCG>K<EAPA-RL-C-EGDTECREYWPGPNFGITNF | 297 |
CACNA1D | ---------------------E--DPAPCA>F<SGNGR-Q-CTANGTECRSGWVGPNGGITNF | 347 |
CACNA1E | ---------------------D--PPHPCG>V<QG------C-PAGYEC-KDWIGPNDGITQF | 292 |
CACNA1F | ---------------------E--DPSPCA>S<SGSGR-A-CTLNQTECRGRWPGPNGGITNF | 313 |
CACNA1G | D---GGGGPPCG-LDYEAYNS--------->S<SNTTC-VNWNQYYTNCSAGEHNPFKGAINF | 337 |
CACNA1H | ------LRMPCT-LGWEAYTQP--QAEGVG>A<ARNAC-INWNQYYNVCRSGDSNPHNGAINF | 361 |
CACNA1I | ------QGRECCLSKDDVYDFG--AGRQDL>N<ASGLC-VNWNRYYNVCRTGSANPHKGAINF | 340 |
CACNA1S | ---------------------E--EPSPCA>R<TGSGR-R-CTINGSECRGGWPGPNHGITHF | 275 |
SCN10A | ------S-SHRK-PDIYINKRGTSDPLLCG>N<GSDSG-H-C-PDGYICLKTSDNPDFNYTSF | 339 |
SCN11A | -----PE---AY-DHCFEKKENSPEFKMCG>I<WMGNS-A-C-SIQYECKHTKINPDYNYTNF | 342 |
SCN1A | F---DWKSYIQD-SRYHYFLEGFLDALLCG>N<SSDAG-Q-C-PEGYMCVKAGRNPNYGYTSF | 365 |
SCN2A | F---NWDEYIED-KSHFYFLEGQNDALLCG>N<SSDAG-Q-C-PEGYICVKAGRNPNYGYTSF | 367 |
SCN3A | F---NWKDYIGD-DSHFYVLDGQKDPLLCG>N<GSDAG-Q-C-PEGYICVKAGRNPNYGYTSF | 366 |
SCN4A | F---DWDAYISD-EGNFYFLEGSNDALLCG>N<SSDAG-H-C-PEGYECIKTGRNPNYGYTSY | 389 |
SCN5A | LVWESLDLYLSD-PENYLLKNGTSDVLLCG>N<SSDAG-T-C-PEGYRCLKAGENPDHGYTSF | 355 |
SCN7A | -----NPYYIRE-TENFYYLEGERYALLCG>N<RTDAG-Q-C-PEGYVCVKAGINPDQGFTNF | 336 |
SCN8A | F---DWEEYINN-KTNFYTVPGMLEPLLCG>N<SSDAG-Q-C-PEGYQCMKAGRNPNYGYTSF | 353 |
SCN9A | E---SEEDF----RKYFYYLEGSKDALLCG>F<STDSG-Q-C-PEGYTCVKIGRNPDYGYTSF | 344 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L318P | c.953T>C | Putative Benign | SIFT: Polyphen: |