Paralogue Annotation for SCN5A residue 620

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 620
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 620

No paralogue variants have been mapped to residue 620 for SCN5A.



SCN5ADCNGVVSLLG-AGD----PEAT-SPGSHLL>R<P-------------VMLEHPP--DTTTPSE635
SCN1ADCNGVVSLVG-G-P----SVPT-SPVGQLL>P<E-------------VIIDKPATDDNGTTTE686
SCN2ADCNGVVSLVG-G-P----STLT-SA-GQLL>P<E------------------------GTTTE677
SCN3ADCNGVVSLVG-G-P----SALT-SPTGQLP>P<E------------------------GTTTE678
SCN4ADCNGSLDTSQ-G------------------>-<------------------------------515
SCN7A------------------------------>-<---------------------------TIQ435
SCN8ADCNGVVSLIG-G-P----GSHI---GGRLL>P<E------------------------A-TTE670
SCN9ADCNGVVSLVD-G-R----SALM-LPNGQLL>P<E-------------G-----------TTNQ652
SCN10A-------SRH-G-E----DEHQPPPT-SEL>A<P----------------------GAVDVSA586
SCN11ADCQKKPQLLE-Q------------------>T<------------------------------498
CACNA1A------------------------------>-<--------------------------D---432
CACNA1B------------------------------>-<--------------------------D---428
CACNA1C------------------------------>-<--------------------------E---472
CACNA1D------------------------------>-<--------------------------E---472
CACNA1E------------------------------>-<--------------------------E---421
CACNA1F------------------------------>-<--------------------------T---458
CACNA1GASSGPPTLTSL-NI----PPGPY-SSMHKL>L<ETQSTGACQS-----SC--KISSPCLK---656
CACNA1HKWAGGPPGTGGHGPLSLNSPDPY-EKIPHV>V<GEHGLGQAPGHLSGLSV--PCPLPSPP---689
CACNA1ITLAS-------------------------->-<------------------------------548
CACNA1S------------------------------>-<--------------------------E---396
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R620Cc.1858C>T Inherited ArrhythmiaBrSrs199473577SIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
Inherited ArrhythmiaBrS Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164
p.R620Hc.1859G>A Putative BenignSIFT:
Polyphen: