No paralogue variants have been mapped to residue 305 for SCN5A.
SCN5A | --------GS---------VEADGLVWESL>D<LYLSD-PENYLLKNGTSDVLLCGNSSDAG- | 333 |
SCN1A | --------IN---------ETVFEF---DW>K<SYIQD-SRYHYFLEGFLDALLCGNSSDAG- | 343 |
SCN2A | --------FN---------RTVSIF---NW>D<EYIED-KSHFYFLEGQNDALLCGNSSDAG- | 345 |
SCN3A | --------VN---------VTMSTF---NW>K<DYIGD-DSHFYVLDGQKDPLLCGNGSDAG- | 344 |
SCN4A | WYGNDSWYANDTWNSHASWATNDTF---DW>D<AYISD-EGNFYFLEGSNDALLCGNSSDAG- | 367 |
SCN7A | ---------N---------RTG-------N>P<YYIRE-TENFYYLEGERYALLCGNRTDAG- | 314 |
SCN8A | --------LE---------NGTKGF---DW>E<EYINN-KTNFYTVPGMLEPLLCGNSSDAG- | 331 |
SCN9A | --------ES---------IMNTLE---SE>E<DF----RKYFYYLEGSKDALLCGFSTDSG- | 322 |
SCN10A | -----------------------Y------>S<-SHRK-PDIYINKRGTSDPLLCGNGSDSG- | 317 |
SCN11A | -----------------------------P>E<---AY-DHCFEKKENSPEFKMCGIWMGNS- | 320 |
CACNA1A | ------------------------------>-<--------------E--SPAPCGTEEPA-R | 279 |
CACNA1B | ------------------------------>-<--------------V--GDFPCGKEAPA-R | 275 |
CACNA1C | ------------------------------>-<--------------D--DPSPCALETGHGR | 324 |
CACNA1D | ------------------------------>-<--------------E--DPAPCAFSGNGR- | 324 |
CACNA1E | ------------------------------>-<--------------D--PPHPCGVQG---- | 272 |
CACNA1F | ------------------------------>-<--------------E--DPSPCASSGSGR- | 290 |
CACNA1G | PRENG-------MRSCRSVPTLRGD---GG>G<GPPCG-LDYEAYNS---------SSNTTC- | 313 |
CACNA1H | RRDNG-------MQKCSHIPGRRE------>L<RMPCT-LGWEAYTQP--QAEGVGAARNAC- | 337 |
CACNA1I | SGDNG-------IMGCHEIPPLKE------>Q<GRECCLSKDDVYDFG--AGRQDLNASGLC- | 316 |
CACNA1S | ------------------------------>-<--------------E--EPSPCARTGSGR- | 252 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D305N | c.913G>A | Putative Benign | SIFT: Polyphen: |