Paralogue Annotation for SCN5A residue 624

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 624
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 624

No paralogue variants have been mapped to residue 624 for SCN5A.



SCN5A-PEAT-SPGSHLLRP-------------VM>L<EHPP--DTTTPSEEPGGPQMLTSQAPCVD-651
SCN1A-SVPT-SPVGQLLPE-------------VI>I<DKPATDDNGTTTETEMRKRRSSSFHVSMD-702
SCN2A-STLT-SA-GQLLPE--------------->-<--------GTTTETEIRKRRSSSYHVSMD-693
SCN3A-SALT-SPTGQLPPE--------------->-<--------GTTTETEVRKRRLSSYQISME-694
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<----------TIQIEMKKRSPISTDTSLD-451
SCN8A-GSHI---GGRLLPE--------------->-<--------A-TTEVEIKKKGPGSLLVSMD-686
SCN9A-SALM-LPNGQLLPE-------------G->-<---------TTNQIH-KKRRCSSYLLSED-667
SCN10A-DEHQPPPT-SELAP--------------->-<------GAVDVSAFD---AGQKKTFLSAE-599
SCN11A-------------T---------------->-<----------------KRLSQNLSLDHFD-511
CACNA1A------------------------------>-<---------D----------LLNPEEAED-441
CACNA1B------------------------------>-<---------D----------LIHAEEGED-437
CACNA1C------------------------------>-<---------E----------SVNTENVAG-481
CACNA1D------------------------------>-<---------E----------SVNTENVSG-481
CACNA1E------------------------------>-<---------E----------AMTRDSSDE-430
CACNA1F------------------------------>-<---------T----------RS-THSTSSH467
CACNA1G-PPGPY-SSMHKLLETQSTGACQS-----S>C<--KISSPCLK----------ADSGACGPD-665
CACNA1HNSPDPY-EKIPHVVGEHGLGQAPGHLSGLS>V<--PCPLPSPP----------AGTLTCELK-698
CACNA1I------------------------------>-<--------------------------DPA-551
CACNA1S------------------------------>-<---------E----------SLY-EI----401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu624Ilec.1870C>A UnknownSIFT:
Polyphen: