Paralogue Annotation for SCN5A residue 632

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 632
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 632

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AT674KAutism spectrum disorderMedium2 26637798

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.



SCN5AHLLRP-------------VMLEHPP--DTT>T<PSEEPGGPQMLTSQAPCVD-GFEEPGARQR661
SCN1AQLLPE-------------VIIDKPATDDNG>T<TTETEMRKRRSSSFHVSMD-FLEDPSQRQR712
SCN2AQLLPE------------------------G>T<TTETEIRKRRSSSYHVSMD-LLEDPTSRQR703
SCN3AQLPPE------------------------G>T<TTETEVRKRRLSSYQISME-MLEDSSGRQR704
SCN4A------------------------------>-<--------------------E---KGAPRQ522
SCN7A------------------------------>-<TIQIEMKKRSPISTDTSLD-VLEDATLRHK461
SCN8ARLLPE------------------------A>-<TTEVEIKKKGPGSLLVSMD-QLASYGRKDR696
SCN9AQLLPE-------------G----------->T<TNQIH-KKRRCSSYLLSED-MLNDPNLRQR677
SCN10ASELAP----------------------GAV>D<VSAFD---AGQKKTFLSAE-YLDEPFRAQR609
SCN11A---T-------------------------->-<------KRLSQNLSLDHFD-EHGDPLQRQR521
CACNA1A------------------------------>D<----------LLNPEEAED-QLA----DIA447
CACNA1B------------------------------>D<----------LIHAEEGED-RFA----DLC443
CACNA1C------------------------------>E<----------SVNTENVAG-G-D----IEG486
CACNA1D------------------------------>E<----------SVNTENVSG-EGE----NRG487
CACNA1E------------------------------>E<----------AMTRDSSDE-HCV----DIS436
CACNA1F------------------------------>T<----------RS-THSTSSHASL----P-A472
CACNA1GHKLLETQSTGACQS-----SC--KISSPCL>K<----------ADSGACGPD-SCP----YCA671
CACNA1HPHVVGEHGLGQAPGHLSGLSV--PCPLPSP>P<----------AGTLTCELK-SCP----YCT704
CACNA1I------------------------------>-<----------------DPA-SCP----CCQ557
CACNA1S------------------------------>E<----------SLY-EI--------------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T632Mc.1895C>T Inherited ArrhythmiaBrSrs199473134SIFT: 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