No paralogue variants have been mapped to residue 314 for SCN5A.
SCN5A | ---------VEADGLVWESLDLYLSD-PEN>Y<LLKNGTSDVLLCGNSSDAG-T-C-PEGYRC | 341 |
SCN1A | ---------ETVFEF---DWKSYIQD-SRY>H<YFLEGFLDALLCGNSSDAG-Q-C-PEGYMC | 351 |
SCN2A | ---------RTVSIF---NWDEYIED-KSH>F<YFLEGQNDALLCGNSSDAG-Q-C-PEGYIC | 353 |
SCN3A | ---------VTMSTF---NWKDYIGD-DSH>F<YVLDGQKDPLLCGNGSDAG-Q-C-PEGYIC | 352 |
SCN4A | DTWNSHASWATNDTF---DWDAYISD-EGN>F<YFLEGSNDALLCGNSSDAG-H-C-PEGYEC | 375 |
SCN7A | ---------RTG-------NPYYIRE-TEN>F<YYLEGERYALLCGNRTDAG-Q-C-PEGYVC | 322 |
SCN8A | ---------NGTKGF---DWEEYINN-KTN>F<YTVPGMLEPLLCGNSSDAG-Q-C-PEGYQC | 339 |
SCN9A | ---------IMNTLE---SEEDF----RKY>F<YYLEGSKDALLCGFSTDSG-Q-C-PEGYTC | 330 |
SCN10A | -------------Y------S-SHRK-PDI>Y<INKRGTSDPLLCGNGSDSG-H-C-PDGYIC | 325 |
SCN11A | -------------------PE---AY-DHC>F<EKKENSPEFKMCGIWMGNS-A-C-SIQYEC | 328 |
CACNA1A | ------------------------------>-<----E--SPAPCGTEEPA-RT-C-PNGTKC | 287 |
CACNA1B | ------------------------------>-<----V--GDFPCGKEAPA-RL-C-EGDTEC | 283 |
CACNA1C | ------------------------------>-<----D--DPSPCALETGHGRQ-CQN-GTVC | 332 |
CACNA1D | ------------------------------>-<----E--DPAPCAFSGNGR-Q-CTANGTEC | 333 |
CACNA1E | ------------------------------>-<----D--PPHPCGVQG------C-PAGYEC | 279 |
CACNA1F | ------------------------------>-<----E--DPSPCASSGSGR-A-CTLNQTEC | 299 |
CACNA1G | --MRSCRSVPTLRGD---GGGGPPCG-LDY>E<AYNS---------SSNTTC-VNWNQYYTNC | 323 |
CACNA1H | --MQKCSHIPGRRE------LRMPCT-LGW>E<AYTQP--QAEGVGAARNAC-INWNQYYNVC | 347 |
CACNA1I | --IMGCHEIPPLKE------QGRECCLSKD>D<VYDFG--AGRQDLNASGLC-VNWNRYYNVC | 326 |
CACNA1S | ------------------------------>-<----E--EPSPCARTGSGR-R-CTINGSEC | 261 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Tyr314His | c.940T>C | Unknown | SIFT: Polyphen: |