Paralogue Annotation for SCN5A residue 134

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 134
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 134

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AN132KEpileptic encephalopathy, early onsetHigh9 24659627
CACNA1FD95NHigh myopiaMedium9 26747767
CACNA1AE101QEpilepsy of infancy with migrating focal seizuresMedium9 27476654

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.



SCN5ARFSATNALYVLSPFHPIRRAAVKILVHSLF>N<MLIMCTILTNCVFMAQH------D-PPPWT157
SCN1ARFSATSALYILTPFNPLRKIAIKILVHSLF>S<MLIMCTILTNCVFMTMS------N-PPDWT154
SCN2ARFSATPALYILTPFNPIRKLAIKILVHSLF>N<MLIMCTILTNCVFMTMS------N-PPDWT155
SCN3ARFSATSALYILTPLNPVRKIAIKILVHSLF>S<MLIMCTILTNCVFMTLS------N-PPDWT154
SCN4ARFSATPALYLLSPFSVVRRGAIKVLIHALF>S<MFIMITILTNCVFMTMS------D-PPPWS157
SCN7ARFNAASILCTLSPFNCIRRTTIKVLVHPFF>Q<LFILISVLIDCVFMSLT------N-LPKWR144
SCN8ARFSATPALYILSPFNLIRRIAIKILIHSVF>S<MIIMCTILTNCVFMTFS------N-PPDWS158
SCN9ARFNATPALYMLSPFSPLRRISIKILVHSLF>S<MLIMCTILTNCIFMTMN------N-PPDWT152
SCN10ARFSATRALWLFSPFNLIRRTAIKVSVHSWF>S<LFITVTILVNCVCMTRT------D-LPE--154
SCN11ARFSAKHALFIFGPFNSIRSLAIRVSVHSLF>S<MFIIGTVIINCVFMATGPA-K--NSNSNNT159
CACNA1ACLTVNRSLFLFSEDNVVRKYAKKITEWPPF>E<YMILATIIANCIVLALEQHLPDDDKTPMSE131
CACNA1BCFTVNRSLFVFSEDNVVRKYAKRITEWPPF>E<YMILATIIANCIVLALEQHLPDGDKTPMSE128
CACNA1CATRPPRALLCLTLKNPIRRACISIVEWKPF>E<IIILLTIFANCVALAIYIPFPEDDSNATNS157
CACNA1DNSRPARALFCLSLNNPIRRACISIVEWKPF>D<IFILLAIFANCVALAIYIPFPEDDSNSTNH159
CACNA1ECFTVNRSLFIFGEDNIVRKYAKKLIDWPPF>E<YMILATIIANCIVLALEQHLPEDDKTPMSR122
CACNA1FAQRSPRALFCLTLANPLRRSCISIVEWKPF>D<ILILLTIFANCVALGVYIPFPEDDSNTANH125
CACNA1GPALAPVVFFYLSQDSRPRSWCLRTVCNPWF>E<RISMLVILLNCVTLGMFRPCEDIACDSQRC114
CACNA1HPALAATVFFCLGQTTRPRSWCLRLVCNPWF>E<HVSMLVIMLNCVTLGMFRPCEDVECGSERC133
CACNA1IPDLAPIAFFCLRQTTSPRNWCIKMVCNPWF>E<CVSMLVILLNCVTLGMYQPCDDMDCLSDRC112
CACNA1SLPRPPRALFCLTLENPLRKACISIVEWKPF>E<TIILLTIFANCVALAVYLPMPEDDNNSLNL84
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 134 for SCN5A.