Paralogue Annotation for SCN5A residue 306

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 306
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 306

No paralogue variants have been mapped to residue 306 for SCN5A.



SCN5A-------GS---------VEADGLVWESLD>L<YLSD-PENYLLKNGTSDVLLCGNSSDAG-T334
SCN1A-------IN---------ETVFEF---DWK>S<YIQD-SRYHYFLEGFLDALLCGNSSDAG-Q344
SCN2A-------FN---------RTVSIF---NWD>E<YIED-KSHFYFLEGQNDALLCGNSSDAG-Q346
SCN3A-------VN---------VTMSTF---NWK>D<YIGD-DSHFYVLDGQKDPLLCGNGSDAG-Q345
SCN4AYGNDSWYANDTWNSHASWATNDTF---DWD>A<YISD-EGNFYFLEGSNDALLCGNSSDAG-H368
SCN7A--------N---------RTG-------NP>Y<YIRE-TENFYYLEGERYALLCGNRTDAG-Q315
SCN8A-------LE---------NGTKGF---DWE>E<YINN-KTNFYTVPGMLEPLLCGNSSDAG-Q332
SCN9A-------ES---------IMNTLE---SEE>D<F----RKYFYYLEGSKDALLCGFSTDSG-Q323
SCN10A----------------------Y------S>-<SHRK-PDIYINKRGTSDPLLCGNGSDSG-H318
SCN11A----------------------------PE>-<--AY-DHCFEKKENSPEFKMCGIWMGNS-A321
CACNA1A------------------------------>-<-------------E--SPAPCGTEEPA-RT280
CACNA1B------------------------------>-<-------------V--GDFPCGKEAPA-RL276
CACNA1C------------------------------>-<-------------D--DPSPCALETGHGRQ325
CACNA1D------------------------------>-<-------------E--DPAPCAFSGNGR-Q325
CACNA1E------------------------------>-<-------------D--PPHPCGVQG-----272
CACNA1F------------------------------>-<-------------E--DPSPCASSGSGR-A291
CACNA1GRENG-------MRSCRSVPTLRGD---GGG>G<PPCG-LDYEAYNS---------SSNTTC-V314
CACNA1HRDNG-------MQKCSHIPGRRE------L>R<MPCT-LGWEAYTQP--QAEGVGAARNAC-I338
CACNA1IGDNG-------IMGCHEIPPLKE------Q>G<RECCLSKDDVYDFG--AGRQDLNASGLC-V317
CACNA1S------------------------------>-<-------------E--EPSPCARTGSGR-R253
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L306Vc.916C>G Putative BenignSIFT:
Polyphen:
p.L306Fc.916C>T Putative BenignSIFT:
Polyphen: