Paralogue Annotation for SCN5A residue 531

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 531
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 531

No paralogue variants have been mapped to residue 531 for SCN5A.



SCN5ALSLTRGLSRTSMKPRSSRG--SIF------>T<--FRR-----R-DLG-----SEA-------541
SCN1AQSLLSIRGSLFSPRRNSRT--SLF------>S<--FRG---RAK-DVG-----SEN-------588
SCN2AQSLLSIRGSLFSPRRNSRA--SLF------>S<--FRG---RAK-DIG-----SEN-------591
SCN3AQSLLSIRGSLFSPRRNSKT--SIF------>S<--FRG---RAK-DVG-----SEN-------591
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8AQSLLSIPGSPFLSRHNSKS--SIF------>S<--FRGPG-RFR-DPG-----SEN-------581
SCN9AQSPLSIRGSLFSARRSSRT--SLF------>S<--FKG---RGR-DIG-----SET-------568
SCN10A-RRMSFLGLASGKRRASHG--SVF------>H<--FRS---PGR-DIS-----LPE-------518
SCN11A------------------------------>-<------------------------------
CACNA1A----------------PFDG-ALR------>R<--TTI---K-K---------SKT-------431
CACNA1B----------------PLDA-VLK------>R<--AAT---K-K---------SRN-------427
CACNA1C-------------------EEKPR------>N<--MSM---P-----T-----SET-------471
CACNA1D-------------------E-GKR------>N<--TSM---P-----T-----SET-------471
CACNA1E----------------L--E-VLR------>R<--ATI---K-R---------SRT-------420
CACNA1F-------------------E-G-RAGHRPQ>L<--AEL---T-NRRRGRLRWFSHS-------457
CACNA1GHYHL-GNGTLRAPRASPEIQ-DRD------>A<NGSRRLMLP-P---------PS-TPALSGA545
CACNA1HHYHF-SHGSPRRPGPEPGAC-DTR------>L<VR-----AG-A---------PPSPPSPGRG565
CACNA1IHCQT-LHGP--------------------->-<---------------------A--------513
CACNA1S------------------------------>S<--LDE---G-----G-----SDT-------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T531Ic.1592C>T Putative BenignSIFT:
Polyphen:
p.T531Ac.1591A>G Putative BenignSIFT:
Polyphen: