Paralogue Annotation for SCN5A residue 130

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 130
Reference Amino Acid: H - Histidine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 130

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH127DDravet syndrome B ?High9 21248271
SCN1AH127LDravet syndromeHigh9 26096185
SCN1AH127YEpilepsy with febrile seizures plusHigh9 27465585

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.



SCN5AKTIFRFSATNALYVLSPFHPIRRAAVKILV>H<SLFNMLIMCTILTNCVFMAQH------D-P153
SCN1AKAIFRFSATSALYILTPFNPLRKIAIKILV>H<SLFSMLIMCTILTNCVFMTMS------N-P150
SCN2AKAISRFSATPALYILTPFNPIRKLAIKILV>H<SLFNMLIMCTILTNCVFMTMS------N-P151
SCN3AKAIFRFSATSALYILTPLNPVRKIAIKILV>H<SLFSMLIMCTILTNCVFMTLS------N-P150
SCN4AKAIFRFSATPALYLLSPFSVVRRGAIKVLI>H<ALFSMFIMITILTNCVFMTMS------D-P153
SCN7ARTIFRFNAASILCTLSPFNCIRRTTIKVLV>H<PFFQLFILISVLIDCVFMSLT------N-L140
SCN8AKTLFRFSATPALYILSPFNLIRRIAIKILI>H<SVFSMIIMCTILTNCVFMTFS------N-P154
SCN9AKTIFRFNATPALYMLSPFSPLRRISIKILV>H<SLFSMLIMCTILTNCIFMTMN------N-P148
SCN10ARTISRFSATRALWLFSPFNLIRRTAIKVSV>H<SWFSLFITVTILVNCVCMTRT------D-L152
SCN11ARTIYRFSAKHALFIFGPFNSIRSLAIRVSV>H<SLFSMFIIGTVIINCVFMATGPA-K--NSN155
CACNA1AVRQNCLTVNRSLFLFSEDNVVRKYAKKITE>W<PPFEYMILATIIANCIVLALEQHLPDDDKT127
CACNA1BVKQNCFTVNRSLFVFSEDNVVRKYAKRITE>W<PPFEYMILATIIANCIVLALEQHLPDGDKT124
CACNA1CGSTTATRPPRALLCLTLKNPIRRACISIVE>W<KPFEIIILLTIFANCVALAIYIPFPEDDSN153
CACNA1DGNSSNSRPARALFCLSLNNPIRRACISIVE>W<KPFDIFILLAIFANCVALAIYIPFPEDDSN155
CACNA1EVRQNCFTVNRSLFIFGEDNIVRKYAKKLID>W<PPFEYMILATIIANCIVLALEQHLPEDDKT118
CACNA1FAVASAQRSPRALFCLTLANPLRRSCISIVE>W<KPFDILILLTIFANCVALGVYIPFPEDDSN121
CACNA1GGLPYPALAPVVFFYLSQDSRPRSWCLRTVC>N<PWFERISMLVILLNCVTLGMFRPCEDIACD110
CACNA1HRVPYPALAATVFFCLGQTTRPRSWCLRLVC>N<PWFEHVSMLVIMLNCVTLGMFRPCEDVECG129
CACNA1IHVPHPDLAPIAFFCLRQTTSPRNWCIKMVC>N<PWFECVSMLVILLNCVTLGMYQPCDDMDCL108
CACNA1SVPEILPRPPRALFCLTLENPLRKACISIVE>W<KPFETIILLTIFANCVALAVYLPMPEDDNN80
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 130 for SCN5A.