Paralogue Annotation for SCN5A residue 116

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 116
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 116

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP113TDravet syndromeHigh9 24168886

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.



SCN5ASTQK-TFI-VLNKGKTIFRFSATNALYVLS>P<FHPIRRAAVKILVHSLFNMLIMCTILTNCV146
SCN1AINKK-TFI-VLNKGKAIFRFSATSALYILT>P<FNPLRKIAIKILVHSLFSMLIMCTILTNCV143
SCN2AINKK-TFI-VLNKGKAISRFSATPALYILT>P<FNPIRKLAIKILVHSLFNMLIMCTILTNCV144
SCN3AINKK-TFI-VMNKGKAIFRFSATSALYILT>P<LNPVRKIAIKILVHSLFSMLIMCTILTNCV143
SCN4ASNKK-TFI-VLNKGKAIFRFSATPALYLLS>P<FSVVRRGAIKVLIHALFSMFIMITILTNCV146
SCN7AYKKKNTFI-VLNKNRTIFRFNAASILCTLS>P<FNCIRRTTIKVLVHPFFQLFILISVLIDCV133
SCN8ALTQK-TFV-VLNRGKTLFRFSATPALYILS>P<FNLIRRIAIKILIHSVFSMIIMCTILTNCV147
SCN9AADKK-TFI-VLNKGKTIFRFNATPALYMLS>P<FSPLRRISIKILVHSLFSMLIMCTILTNCI141
SCN10ASTHR-TFM-VLNKGRTISRFSATRALWLFS>P<FNLIRRTAIKVSVHSWFSLFITVTILVNCV145
SCN11ARNHK-TFM-VLNRKRTIYRFSAKHALFIFG>P<FNSIRSLAIRVSVHSLFSMFIIGTVIINCV144
CACNA1AQRARTMAL-YNPIPVRQNCLTVNRSLFLFS>E<DNVVRKYAKKITEWPPFEYMILATIIANCI113
CACNA1BQRARTMAL-YNPIPVKQNCFTVNRSLFVFS>E<DNVVRKYAKRITEWPPFEYMILATIIANCI110
CACNA1CQRKRQQYG-KPKKQGSTTATRPPRALLCLT>L<KNPIRRACISIVEWKPFEIIILLTIFANCV139
CACNA1DQRKRQQYA-KSKKQGNSSNSRPARALFCLS>L<NNPIRRACISIVEWKPFDIFILLAIFANCV141
CACNA1EQRARTMAL-YNPIPVRQNCFTVNRSLFIFG>E<DNIVRKYAKKLIDWPPFEYMILATIIANCI104
CACNA1FPKRRNQHS-KHKTVAVASAQRSPRALFCLT>L<ANPLRRSCISIVEWKPFDILILLTIFANCV107
CACNA1G-EKDPG-SADSEAEGLPYPALAPVVFFYLS>Q<DSRPRSWCLRTVCNPWFERISMLVILLNCV96
CACNA1H-ERGAELG-ADEEQRVPYPALAATVFFCLG>Q<TTRPRSWCLRLVCNPWFEHVSMLVIMLNCV115
CACNA1I-LEEPL-D-G-ADPHVPHPDLAPIAFFCLR>Q<TTSPRNWCIKMVCNPWFECVSMLVILLNCV94
CACNA1SQDEGLRKK-QPKKPVPEILPRPPRALFCLT>L<ENPLRKACISIVEWKPFETIILLTIFANCV66
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 116 for SCN5A.