Paralogue Annotation for SCN5A residue 642

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 642
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 642

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AG590RBrugada syndromeLow2 25691538

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.



SCN5A--------VMLEHPP--DTTTPSEEPGGPQ>M<LTSQAPCVD-GFEEPGARQR-A-LSAVSVL669
SCN1A--------VIIDKPATDDNGTTTETEMRKR>R<SSSFHVSMD-FLEDPSQRQR-A-MSIASIL720
SCN2A-------------------GTTTETEIRKR>R<SSSYHVSMD-LLEDPTSRQR-A-MSIASIL711
SCN3A-------------------GTTTETEVRKR>R<LSSYQISME-MLEDSSGRQR-A-VSIASIL712
SCN4A------------------------------>-<----------E---KGAPRQ-S-SSGDSGI530
SCN7A---------------------TIQIEMKKR>S<PISTDTSLD-VLEDATLRHK----------461
SCN8A-------------------A-TTEVEIKKK>G<PGSLLVSMD-QLASYGRKDR-I-NSIMSVV704
SCN9A--------G-----------TTNQIH-KKR>R<CSSYLLSED-MLNDPNLRQR-A-MSRASIL685
SCN10A-----------------GAVDVSAFD---A>G<QKKTFLSAE-YLDEPFRAQR-A-MSVVSII617
SCN11A---------------------------KRL>S<QNLSLDHFD-EHGDPLQRQR-A-LSAVSIL529
CACNA1A--------------------D--------->-<LLNPEEAED-QLA----DIA-S-VG-----450
CACNA1B--------------------D--------->-<LIHAEEGED-RFA----DLC-A-VG-----446
CACNA1C--------------------E--------->-<SVNTENVAG-G-D----IEGEN-CG-----490
CACNA1D--------------------E--------->-<SVNTENVSG-EGE----NRG-C-CGSLWCW495
CACNA1E--------------------E--------->-<AMTRDSSDE-HCV----DIS-S-VG-----439
CACNA1F--------------------T--------->-<RS-THSTSSHASL----P-A-SDTGSMTET481
CACNA1GACQS-----SC--KISSPCLK--------->-<ADSGACGPD-SCP----YCA-R-AG-----674
CACNA1HQAPGHLSGLSV--PCPLPSPP--------->-<AGTLTCELK-SCP----YCT-R-AL-----707
CACNA1I------------------------------>-<------DPA-SCP----CCQ-H-ED-----560
CACNA1S--------------------E--------->-<SLY-EI------------------------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 642 for SCN5A.