Paralogue Annotation for SCN5A residue 534

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 534
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 534

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AG559SDravet syndromeLow2 23895530

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.



SCN5AGLSRTSMKPRSSRG--SIF------T--FR>R<-----R-DLG-----SEA-------DFADD546
SCN1AIRGSLFSPRRNSRT--SLF------S--FR>G<---RAK-DVG-----SEN-------DFADD593
SCN2AIRGSLFSPRRNSRA--SLF------S--FR>G<---RAK-DIG-----SEN-------DFADD596
SCN3AIRGSLFSPRRNSKT--SIF------S--FR>G<---RAK-DVG-----SEN-------DFADD596
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8AIPGSPFLSRHNSKS--SIF------S--FR>G<PG-RFR-DPG-----SEN-------EFADD586
SCN9AIRGSLFSARRSSRT--SLF------S--FK>G<---RGR-DIG-----SET-------EFADD573
SCN10AFLGLASGKRRASHG--SVF------H--FR>S<---PGR-DIS-----LPE-------GVTDD523
SCN11A------------------------------>-<------------------------------
CACNA1A-----------PFDG-ALR------R--TT>I<---K-K---------SKT------------431
CACNA1B-----------PLDA-VLK------R--AA>T<---K-K---------SRN------------427
CACNA1C--------------EEKPR------N--MS>M<---P-----T-----SET------------471
CACNA1D--------------E-GKR------N--TS>M<---P-----T-----SET------------471
CACNA1E-----------L--E-VLR------R--AT>I<---K-R---------SRT------------420
CACNA1F--------------E-G-RAGHRPQL--AE>L<---T-NRRRGRLRWFSHS------------457
CACNA1GGNGTLRAPRASPEIQ-DRD------ANGSR>R<LMLP-P---------PS-TPALSGAPPGGA550
CACNA1HSHGSPRRPGPEPGAC-DTR------LVR-->-<--AG-A---------PPSPPSPGRGPPD-A569
CACNA1ILHGP-------------------------->-<----------------A--------SPGND518
CACNA1S-------------------------S--LD>E<---G-----G-----SDT------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 534 for SCN5A.