Paralogue Annotation for SCN5A residue 530

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 530
Reference Amino Acid: F - Phenylalanine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 530

No paralogue variants have been mapped to residue 530 for SCN5A.



SCN5A------HLSLTRGLSRTSMKPRSSRG--SI>F<------T--FRR-----R-DLG-----SEA541
SCN1AKRYSSPHQSLLSIRGSLFSPRRNSRT--SL>F<------S--FRG---RAK-DVG-----SEN588
SCN2AKRFSSPHQSLLSIRGSLFSPRRNSRA--SL>F<------S--FRG---RAK-DIG-----SEN591
SCN3AKKFCSPHQSLLSIRGSLFSPRRNSKT--SI>F<------S--FRG---RAK-DVG-----SEN591
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ARKFSIMNQSLLSIPGSPFLSRHNSKS--SI>F<------S--FRGPG-RFR-DPG-----SEN581
SCN9AKRLSTPNQSPLSIRGSLFSARRSSRT--SL>F<------S--FKG---RGR-DIG-----SET568
SCN10A--------RRMSFLGLASGKRRASHG--SV>F<------H--FRS---PGR-DIS-----LPE518
SCN11A------------------------------>-<------------------------------
CACNA1A-----------------------PFDG-AL>R<------R--TTI---K-K---------SKT431
CACNA1B-----------------------PLDA-VL>K<------R--AAT---K-K---------SRN427
CACNA1C--------------------------EEKP>R<------N--MSM---P-----T-----SET471
CACNA1D--------------------------E-GK>R<------N--TSM---P-----T-----SET471
CACNA1E-----------------------L--E-VL>R<------R--ATI---K-R---------SRT420
CACNA1F--------------------------E-G->R<AGHRPQL--AEL---T-NRRRGRLRWFSHS457
CACNA1GHHHHHHHHYHL-GNGTLRAPRASPEIQ-DR>D<------ANGSRRLMLP-P---------PS-538
CACNA1HHHHHHHHHYHF-SHGSPRRPGPEPGAC-DT>R<------LVR-----AG-A---------PPS558
CACNA1IGRHLGSRHCQT-LHGP-------------->-<----------------------------A-513
CACNA1S------------------------------>-<------S--LDE---G-----G-----SDT395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F530Vc.1588T>G Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
p.F530Sc.1589T>C Putative BenignSIFT:
Polyphen: