Paralogue Annotation for SCN5A residue 1389

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1389
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1389

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AS1337TBrugada syndromeLow3 24998131, 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.



SCN5AGRCINQTEGDL-P-LNYTIVNNKSQCESLN>L<TGE--LYWTKVKVNFDNVGAGYLALLQVAT1417
SCN1AYHCINTTTGDR---FDIEDVNNHTDCLKLI>E<RNET-ARWKNVKVNFDNVGFGYLSLLQVAT1430
SCN2AYHCINYTTGEM---FDVSVVNNYSECKALI>E<SNQT-ARWKNVKVNFDNVGLGYLSLLQVAT1420
SCN3AYHCVNMTTGNM---FDISDVNNLSDCQALG>K<--Q--ARWKNVKVNFDNVGAGYLALLQVAT1415
SCN4AYYCINTTTSER---FDISEVNNKSECESLM>H<TGQ--VRWLNVKVNYDNVGLGYLSLLQVAT1242
SCN7AYECIDPTSGER---FPSSEVMNKSRCESLL>F<NES--MLWENAKMNFDNVGNGFLSLLQVAT1140
SCN8AHYCFNETSEIR---FEIEDVNNKTECEKLM>E<GNNTEIRWKNVKINFDNVGAGYLALLQVAT1411
SCN9AYECINTTDGSR---FPASQVPNRSECFALM>N<VSQN-VRWKNLKVNFDNVGLGYLSLLQVAT1393
SCN10AWRCINYTDGEF-SLVPLSIVNNKSDCKIQN>S<TGS--FFWVNVKVNFDNVAMGYLALLQVAT1365
SCN11AGKCINGTDSVI----NYTIITNKSQCESGN>-<-----FSWINQKVNFDNVGNAYLALLQVAT1255
CACNA1AFHCTDESKEFEKDCRGKYLLYEKNEVK--->-<AR--DREWKKYEFHYDNVLWALLTLFTVST1458
CACNA1BFYCTDESKELERDCRGQYLDYEKEEVE--->-<AQ--PRQWKKYDFHYDNVLWALLTLFTVST1364
CACNA1CYTCSDSSKQTEAECKGNYITYKDGEVDHP->I<IQ--PRSWENSKFDFDNVLAAMMALFTVST1113
CACNA1DYRCTDEAKSNPEECRGLFILYKDGDVDSP->V<VR--ERIWQNSDFNFDNVLSAMMALFTVST1119
CACNA1EFYCTDSSKDTEKECIGNYVDHEKNKME--->-<VK--GREWKRHEFHYDNIIWALLTLFTVST1370
CACNA1FYTCTDEAKHTPQECKGSFLVYPDGDVSRP->L<VR--ERLWVNSDFNFDNVLSAMMALFTVST1084
CACNA1GFVCQGED---------TRNITNKSDCA--->-<EA--SYRWVRHKYNFDNLGQALMSLFVLAS1484
CACNA1HYYCEGPD---------TRNISTKAQCR--->-<AA--HYRWVRRKYNFDNLGQALMSLFVLSS1502
CACNA1IYHCLGVD---------TRNITNRSDCM--->-<AA--NYRWVHHKYNFDNLGQALMSLFVLAS1378
CACNA1SFRCTDLSKMTEEECRGYYYVYKDGDPMQI->E<LR--HREWVHSDFHFDNVLSAMMSLFTVST1012
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1389 for SCN5A.