Paralogue Annotation for SCN5A residue 308

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 308
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 308

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HP314SEpilepsy, childhood absenceLow3 17156077, 20981092

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5A-----GS---------VEADGLVWESLDLY>L<SD-PENYLLKNGTSDVLLCGNSSDAG-T-C335
SCN1A-----IN---------ETVFEF---DWKSY>I<QD-SRYHYFLEGFLDALLCGNSSDAG-Q-C345
SCN2A-----FN---------RTVSIF---NWDEY>I<ED-KSHFYFLEGQNDALLCGNSSDAG-Q-C347
SCN3A-----VN---------VTMSTF---NWKDY>I<GD-DSHFYVLDGQKDPLLCGNGSDAG-Q-C346
SCN4ANDSWYANDTWNSHASWATNDTF---DWDAY>I<SD-EGNFYFLEGSNDALLCGNSSDAG-H-C369
SCN7A------N---------RTG-------NPYY>I<RE-TENFYYLEGERYALLCGNRTDAG-Q-C316
SCN8A-----LE---------NGTKGF---DWEEY>I<NN-KTNFYTVPGMLEPLLCGNSSDAG-Q-C333
SCN9A-----ES---------IMNTLE---SEEDF>-<---RKYFYYLEGSKDALLCGFSTDSG-Q-C324
SCN10A--------------------Y------S-S>H<RK-PDIYINKRGTSDPLLCGNGSDSG-H-C319
SCN11A--------------------------PE-->-<AY-DHCFEKKENSPEFKMCGIWMGNS-A-C322
CACNA1A------------------------------>-<-----------E--SPAPCGTEEPA-RT-C281
CACNA1B------------------------------>-<-----------V--GDFPCGKEAPA-RL-C277
CACNA1C------------------------------>-<-----------D--DPSPCALETGHGRQ-C326
CACNA1D------------------------------>-<-----------E--DPAPCAFSGNGR-Q-C326
CACNA1E------------------------------>-<-----------D--PPHPCGVQG------C273
CACNA1F------------------------------>-<-----------E--DPSPCASSGSGR-A-C292
CACNA1GNG-------MRSCRSVPTLRGD---GGGGP>P<CG-LDYEAYNS---------SSNTTC-VNW316
CACNA1HNG-------MQKCSHIPGRRE------LRM>P<CT-LGWEAYTQP--QAEGVGAARNAC-INW340
CACNA1ING-------IMGCHEIPPLKE------QGR>E<CCLSKDDVYDFG--AGRQDLNASGLC-VNW319
CACNA1S------------------------------>-<-----------E--EPSPCARTGSGR-R-C254
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 308 for SCN5A.