Paralogue Annotation for SCN5A residue 623

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 623
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 623

No paralogue variants have been mapped to residue 623 for SCN5A.



SCN5A--PEAT-SPGSHLLRP-------------V>M<LEHPP--DTTTPSEEPGGPQMLTSQAPCVD651
SCN1A--SVPT-SPVGQLLPE-------------V>I<IDKPATDDNGTTTETEMRKRRSSSFHVSMD702
SCN2A--STLT-SA-GQLLPE-------------->-<---------GTTTETEIRKRRSSSYHVSMD693
SCN3A--SALT-SPTGQLPPE-------------->-<---------GTTTETEVRKRRLSSYQISME694
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<-----------TIQIEMKKRSPISTDTSLD451
SCN8A--GSHI---GGRLLPE-------------->-<---------A-TTEVEIKKKGPGSLLVSMD686
SCN9A--SALM-LPNGQLLPE-------------G>-<----------TTNQIH-KKRRCSSYLLSED667
SCN10A--DEHQPPPT-SELAP-------------->-<-------GAVDVSAFD---AGQKKTFLSAE599
SCN11A--------------T--------------->-<-----------------KRLSQNLSLDHFD511
CACNA1A------------------------------>-<----------D----------LLNPEEAED441
CACNA1B------------------------------>-<----------D----------LIHAEEGED437
CACNA1C------------------------------>-<----------E----------SVNTENVAG481
CACNA1D------------------------------>-<----------E----------SVNTENVSG481
CACNA1E------------------------------>-<----------E----------AMTRDSSDE430
CACNA1F------------------------------>-<----------T----------RS-THSTSS466
CACNA1G--PPGPY-SSMHKLLETQSTGACQS----->S<C--KISSPCLK----------ADSGACGPD665
CACNA1HLNSPDPY-EKIPHVVGEHGLGQAPGHLSGL>S<V--PCPLPSPP----------AGTLTCELK698
CACNA1I------------------------------>-<---------------------------DPA551
CACNA1S------------------------------>-<----------E----------SLY-EI---401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M623Tc.1868T>C Putative BenignSIFT:
Polyphen: