Paralogue Annotation for SCN5A residue 633

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 633
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 633

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AT668IEpileptic encephalopathyLow1 25849321

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5ALLRP-------------VMLEHPP--DTTT>P<SEEPGGPQMLTSQAPCVD-GFEEPGARQR-661
SCN1ALLPE-------------VIIDKPATDDNGT>T<TETEMRKRRSSSFHVSMD-FLEDPSQRQR-712
SCN2ALLPE------------------------GT>T<TETEIRKRRSSSYHVSMD-LLEDPTSRQR-703
SCN3ALPPE------------------------GT>T<TETEVRKRRLSSYQISME-MLEDSSGRQR-704
SCN4A------------------------------>-<-------------------E---KGAPRQ-522
SCN7A------------------------------>T<IQIEMKKRSPISTDTSLD-VLEDATLRHK-461
SCN8ALLPE------------------------A->T<TEVEIKKKGPGSLLVSMD-QLASYGRKDR-696
SCN9ALLPE-------------G-----------T>T<NQIH-KKRRCSSYLLSED-MLNDPNLRQR-677
SCN10AELAP----------------------GAVD>V<SAFD---AGQKKTFLSAE-YLDEPFRAQR-609
SCN11A--T--------------------------->-<-----KRLSQNLSLDHFD-EHGDPLQRQR-521
CACNA1A-----------------------------D>-<---------LLNPEEAED-QLA----DIA-447
CACNA1B-----------------------------D>-<---------LIHAEEGED-RFA----DLC-443
CACNA1C-----------------------------E>-<---------SVNTENVAG-G-D----IEGE487
CACNA1D-----------------------------E>-<---------SVNTENVSG-EGE----NRG-487
CACNA1E-----------------------------E>-<---------AMTRDSSDE-HCV----DIS-436
CACNA1F-----------------------------T>-<---------RS-THSTSSHASL----P-A-472
CACNA1GKLLETQSTGACQS-----SC--KISSPCLK>-<---------ADSGACGPD-SCP----YCA-671
CACNA1HHVVGEHGLGQAPGHLSGLSV--PCPLPSPP>-<---------AGTLTCELK-SCP----YCT-704
CACNA1I------------------------------>-<---------------DPA-SCP----CCQ-557
CACNA1S-----------------------------E>-<---------SLY-EI---------------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 633 for SCN5A.