No paralogue variants have been mapped to residue 317 for CACNA1C.
CACNA1C | ----------------------D--DPSPC>A<LETGHGRQ-CQN-GTVCKPGWDGPKHGITN | 345 |
CACNA1A | ----------------------E--SPAPC>G<TEEPA-RT-C-PNGTKCQPYWEGPNNGITQ | 300 |
CACNA1B | ----------------------V--GDFPC>G<KEAPA-RL-C-EGDTECREYWPGPNFGITN | 296 |
CACNA1D | ----------------------E--DPAPC>A<FSGNGR-Q-CTANGTECRSGWVGPNGGITN | 346 |
CACNA1E | ----------------------D--PPHPC>G<VQG------C-PAGYEC-KDWIGPNDGITQ | 291 |
CACNA1F | ----------------------E--DPSPC>A<SSGSGR-A-CTLNQTECRGRWPGPNGGITN | 312 |
CACNA1G | GD---GGGGPPCG-LDYEAYNS-------->-<SSNTTC-VNWNQYYTNCSAGEHNPFKGAIN | 336 |
CACNA1H | E------LRMPCT-LGWEAYTQP--QAEGV>G<AARNAC-INWNQYYNVCRSGDSNPHNGAIN | 360 |
CACNA1I | E------QGRECCLSKDDVYDFG--AGRQD>L<NASGLC-VNWNRYYNVCRTGSANPHKGAIN | 339 |
CACNA1S | ----------------------E--EPSPC>A<RTGSGR-R-CTINGSECRGGWPGPNHGITH | 274 |
SCN10A | Y------S-SHRK-PDIYINKRGTSDPLLC>G<NGSDSG-H-C-PDGYICLKTSDNPDFNYTS | 338 |
SCN11A | ------PE---AY-DHCFEKKENSPEFKMC>G<IWMGNS-A-C-SIQYECKHTKINPDYNYTN | 341 |
SCN1A | EF---DWKSYIQD-SRYHYFLEGFLDALLC>G<NSSDAG-Q-C-PEGYMCVKAGRNPNYGYTS | 364 |
SCN2A | IF---NWDEYIED-KSHFYFLEGQNDALLC>G<NSSDAG-Q-C-PEGYICVKAGRNPNYGYTS | 366 |
SCN3A | TF---NWKDYIGD-DSHFYVLDGQKDPLLC>G<NGSDAG-Q-C-PEGYICVKAGRNPNYGYTS | 365 |
SCN4A | TF---DWDAYISD-EGNFYFLEGSNDALLC>G<NSSDAG-H-C-PEGYECIKTGRNPNYGYTS | 388 |
SCN5A | GLVWESLDLYLSD-PENYLLKNGTSDVLLC>G<NSSDAG-T-C-PEGYRCLKAGENPDHGYTS | 354 |
SCN7A | ------NPYYIRE-TENFYYLEGERYALLC>G<NRTDAG-Q-C-PEGYVCVKAGINPDQGFTN | 335 |
SCN8A | GF---DWEEYINN-KTNFYTVPGMLEPLLC>G<NSSDAG-Q-C-PEGYQCMKAGRNPNYGYTS | 352 |
SCN9A | LE---SEEDF----RKYFYYLEGSKDALLC>G<FSTDSG-Q-C-PEGYTCVKIGRNPDYGYTS | 343 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A317E | c.950C>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.A317V | c.950C>T | Putative Benign | SIFT: Polyphen: |