Paralogue Annotation for SCN5A residue 305

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 305
Reference Amino Acid: D - Aspartate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 305

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
SCN4AWYGNDSWYANDTWNSHASWATNDTF---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-R279
CACNA1B------------------------------>-<--------------V--GDFPCGKEAPA-R275
CACNA1C------------------------------>-<--------------D--DPSPCALETGHGR324
CACNA1D------------------------------>-<--------------E--DPAPCAFSGNGR-324
CACNA1E------------------------------>-<--------------D--PPHPCGVQG----272
CACNA1F------------------------------>-<--------------E--DPSPCASSGSGR-290
CACNA1GPRENG-------MRSCRSVPTLRGD---GG>G<GPPCG-LDYEAYNS---------SSNTTC-313
CACNA1HRRDNG-------MQKCSHIPGRRE------>L<RMPCT-LGWEAYTQP--QAEGVGAARNAC-337
CACNA1ISGDNG-------IMGCHEIPPLKE------>Q<GRECCLSKDDVYDFG--AGRQDLNASGLC-316
CACNA1S------------------------------>-<--------------E--EPSPCARTGSGR-252
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D305Nc.913G>A Putative BenignSIFT:
Polyphen: