Paralogue Annotation for SCN5A residue 314

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 314
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 314

No paralogue variants have been mapped to residue 314 for SCN5A.



SCN5A---------VEADGLVWESLDLYLSD-PEN>Y<LLKNGTSDVLLCGNSSDAG-T-C-PEGYRC341
SCN1A---------ETVFEF---DWKSYIQD-SRY>H<YFLEGFLDALLCGNSSDAG-Q-C-PEGYMC351
SCN2A---------RTVSIF---NWDEYIED-KSH>F<YFLEGQNDALLCGNSSDAG-Q-C-PEGYIC353
SCN3A---------VTMSTF---NWKDYIGD-DSH>F<YVLDGQKDPLLCGNGSDAG-Q-C-PEGYIC352
SCN4ADTWNSHASWATNDTF---DWDAYISD-EGN>F<YFLEGSNDALLCGNSSDAG-H-C-PEGYEC375
SCN7A---------RTG-------NPYYIRE-TEN>F<YYLEGERYALLCGNRTDAG-Q-C-PEGYVC322
SCN8A---------NGTKGF---DWEEYINN-KTN>F<YTVPGMLEPLLCGNSSDAG-Q-C-PEGYQC339
SCN9A---------IMNTLE---SEEDF----RKY>F<YYLEGSKDALLCGFSTDSG-Q-C-PEGYTC330
SCN10A-------------Y------S-SHRK-PDI>Y<INKRGTSDPLLCGNGSDSG-H-C-PDGYIC325
SCN11A-------------------PE---AY-DHC>F<EKKENSPEFKMCGIWMGNS-A-C-SIQYEC328
CACNA1A------------------------------>-<----E--SPAPCGTEEPA-RT-C-PNGTKC287
CACNA1B------------------------------>-<----V--GDFPCGKEAPA-RL-C-EGDTEC283
CACNA1C------------------------------>-<----D--DPSPCALETGHGRQ-CQN-GTVC332
CACNA1D------------------------------>-<----E--DPAPCAFSGNGR-Q-CTANGTEC333
CACNA1E------------------------------>-<----D--PPHPCGVQG------C-PAGYEC279
CACNA1F------------------------------>-<----E--DPSPCASSGSGR-A-CTLNQTEC299
CACNA1G--MRSCRSVPTLRGD---GGGGPPCG-LDY>E<AYNS---------SSNTTC-VNWNQYYTNC323
CACNA1H--MQKCSHIPGRRE------LRMPCT-LGW>E<AYTQP--QAEGVGAARNAC-INWNQYYNVC347
CACNA1I--IMGCHEIPPLKE------QGRECCLSKD>D<VYDFG--AGRQDLNASGLC-VNWNRYYNVC326
CACNA1S------------------------------>-<----E--EPSPCARTGSGR-R-CTINGSEC261
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Tyr314Hisc.940T>C UnknownSIFT:
Polyphen: