Paralogue Annotation for SCN5A residue 520

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 520
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 520

No paralogue variants have been mapped to residue 520 for SCN5A.



SCN5A------------------HLSLTRGLSRTS>M<KPRSSRG--SIF------T--FRR-----R535
SCN1ARFSIEGNRLTYEKRYSSPHQSLLSIRGSLF>S<PRRNSRT--SLF------S--FRG---RAK582
SCN2ARFSLEGSRLTYEKRFSSPHQSLLSIRGSLF>S<PRRNSRA--SLF------S--FRG---RAK585
SCN3ALFSMDGNRLTSDKKFCSPHQSLLSIRGSLF>S<PRRNSKT--SIF------S--FRG---RAK585
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ARLP-D-NRIG--RKFSIMNQSLLSIPGSPF>L<SRHNSKS--SIF------S--FRGPG-RFR575
SCN9AHLGVEGHRRAHEKRLSTPNQSPLSIRGSLF>S<ARRSSRT--SLF------S--FKG---RGR562
SCN10A--------------------RRMSFLGLAS>G<KRRASHG--SVF------H--FRS---PGR512
SCN11A------------------------------>-<------------------------------
CACNA1A------------------------------>-<----PFDG-ALR------R--TTI---K-K428
CACNA1B------------------------------>-<----PLDA-VLK------R--AAT---K-K424
CACNA1C------------------------------>-<-------EEKPR------N--MSM---P--467
CACNA1D------------------------------>-<-------E-GKR------N--TSM---P--467
CACNA1E------------------------------>-<----L--E-VLR------R--ATI---K-R417
CACNA1F------------------------------>-<-------E-G-RAGHRPQL--AEL---T-N445
CACNA1G-HHLVH------HHHHHHHHYHL-GNGTLR>A<PRASPEIQ-DRD------ANGSRRLMLP-P536
CACNA1HHHLVYH------HHHHHHHHYHF-SHGSPR>R<PGPEPGAC-DTR------LVR-----AG-A555
CACNA1IKGQGDE------GRHLGSRHCQT-LHGP-->-<------------------------------512
CACNA1S------------------------------>-<------------------S--LDE---G--391
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M520Vc.1558A>G Putative BenignSIFT:
Polyphen: