Paralogue Annotation for SCN5A residue 148

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 148
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 148

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM145TFebrile seizuresHigh9 16326807, 17565594, 25525159
SCN1AM145VDravet syndromeHigh9 26096185

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.



SCN5AHPIRRAAVKILVHSLFNMLIMCTILTNCVF>M<AQH------D-PPPWT--KYVEYTFTA-IY168
SCN1ANPLRKIAIKILVHSLFSMLIMCTILTNCVF>M<TMS------N-PPDWT--KNVEYTFTG-IY165
SCN2ANPIRKLAIKILVHSLFNMLIMCTILTNCVF>M<TMS------N-PPDWT--KNVEYTFTG-IY166
SCN3ANPVRKIAIKILVHSLFSMLIMCTILTNCVF>M<TLS------N-PPDWT--KNVEYTFTG-IY165
SCN4ASVVRRGAIKVLIHALFSMFIMITILTNCVF>M<TMS------D-PPPWS--KNVEYTFTG-IY168
SCN7ANCIRRTTIKVLVHPFFQLFILISVLIDCVF>M<SLT------N-LPKWR--PVLENTLLG-IY155
SCN8ANLIRRIAIKILIHSVFSMIIMCTILTNCVF>M<TFS------N-PPDWS--KNVEYTFTG-IY169
SCN9ASPLRRISIKILVHSLFSMLIMCTILTNCIF>M<TMN------N-PPDWT--KNVEYTFTG-IY163
SCN10ANLIRRTAIKVSVHSWFSLFITVTILVNCVC>M<TRT------D-LPE-----KIEYVFTV-IY164
SCN11ANSIRSLAIRVSVHSLFSMFIIGTVIINCVF>M<ATGPA-K--NSNSNNT--DIAECVFTG-IY170
CACNA1ANVVRKYAKKITEWPPFEYMILATIIANCIV>L<ALEQHLPDDDKTPMSERLDDTEPYFIG-IF144
CACNA1BNVVRKYAKRITEWPPFEYMILATIIANCIV>L<ALEQHLPDGDKTPMSERLDDTEPYFIG-IF141
CACNA1CNPIRRACISIVEWKPFEIIILLTIFANCVA>L<AIYIPFPEDDSNATNSNLERVEYLFLI-IF170
CACNA1DNPIRRACISIVEWKPFDIFILLAIFANCVA>L<AIYIPFPEDDSNSTNHNLEKVEYAFLI-IF172
CACNA1ENIVRKYAKKLIDWPPFEYMILATIIANCIV>L<ALEQHLPEDDKTPMSRRLEKTEPYFIG-IF135
CACNA1FNPLRRSCISIVEWKPFDILILLTIFANCVA>L<GVYIPFPEDDSNTANHNLEQVEYVFLV-IF138
CACNA1GSRPRSWCLRTVCNPWFERISMLVILLNCVT>L<GMFRPCEDIACDSQRCRILQAFDDFIFAFF128
CACNA1HTRPRSWCLRLVCNPWFEHVSMLVIMLNCVT>L<GMFRPCEDVECGSERCNILEAFDAFIFAFF147
CACNA1ITSPRNWCIKMVCNPWFECVSMLVILLNCVT>L<GMYQPCDDMDCLSDRCKILQVFDDFIFIFF126
CACNA1SNPLRKACISIVEWKPFETIILLTIFANCVA>L<AVYLPMPEDDNNSLNLGLEKLEYFFLI-VF97
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 148 for SCN5A.