Paralogue Annotation for SCN5A residue 1611

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1611
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1611

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL1436PParamyotonia congenitaMedium9 18166706, 21664816
SCN8AI1605REpileptic encephalopathyHigh9 25568300
SCN1AL1624PHemiplegic migraineMedium9 26763045, 26763045

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.



SCN5ALR-HYYFTNSWNIFDFVVVILSIVGTVLSD>I<IQ----------------------KYFFSP1619
SCN1ALR-HYYFTIGWNIFDFVVVILSIVGMFLAE>L<IE----------------------KYFVSP1632
SCN2ALR-YYYFTIGWNIFDFVVVILSIVGMFLAE>L<IE----------------------KYFVSP1622
SCN3ALR-HYYFTIGWNIFDFVVVILSIVGMFLAE>M<IE----------------------KYFVSP1617
SCN4ALR-QYYFTVGWNIFDFVVVILSIVGLALSD>L<IQ----------------------KYFVSP1444
SCN7AFR-CFYFTIAWNIFDFMVVIFSITGLCLPM>T<VG----------------------SYLVPP1342
SCN8ALR-HYYFTIGWNIFDFVVVILSIVGMFLAD>I<IE----------------------KYFVSP1613
SCN9ALR-HYYFTVGWNIFDFVVVIISIVGMFLAD>L<IE----------------------TYFVSP1595
SCN10ALR-QYYFTNGWNVFDFIVVVLSIASLIFSA>I<LKS--------------------LQSYFSP1569
SCN11ALR-QYYFTNGWNLFDCVVVLLSIVSTMIST>L<ENQ--------------------EHIPFPP1459
CACNA1AFGILNYFRDAWNIFDFVTVLGSITDILVTE>F<GNN-----------------------FINL1657
CACNA1BFGVLNYFRDAWNVFDFVTVLGSITDILVTE>I<AET---------------------NNFINL1565
CACNA1CFKPKHYFCDAWNTFDALIVVGSIVDIAITE>V<NPAE----HTQ----CSPSMNAEENSRISI1325
CACNA1DFKPKGYFSDAWNTFDSLIVIGSIIDVALSE>A<DPTE----SENVPVPTATPGNSEESNRISI1335
CACNA1EFGFLNYFRDTWNIFDFITVIGSITEIILTD>S<KLV--------------------NTSGFNM1572
CACNA1FFKPKHYFTDAWNTFDALIVVGSIVDIAVTE>V<NNGG----HLG----E----SSEDSSRISI1292
CACNA1GFGFRRFFQDRWNQLDLAIVLLSIMGITLEE>I<EVN--------------------ASLPINP1705
CACNA1HFGFRRFFKDRWNQLDLAIVLLSLMGITLEE>I<EMS--------------------AALPINP1711
CACNA1IFGLRRFFKDRWNQLDLAIVLLSVMGITLEE>I<EIN--------------------AALPINP1581
CACNA1SFKARGYFGDPWNVFDFLIVIGSIIDVILSE>I<DTFLASSGGLYCLGGGCGNVDPDESARISS1232
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1611 for SCN5A.