Paralogue Annotation for SCN5A residue 128

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 128
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 128

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL128PMyotoniaHigh9 23810313

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.



SCN5AKGKTIFRFSATNALYVLSPFHPIRRAAVKI>L<VHSLFNMLIMCTILTNCVFMAQH------D152
SCN1AKGKAIFRFSATSALYILTPFNPLRKIAIKI>L<VHSLFSMLIMCTILTNCVFMTMS------N149
SCN2AKGKAISRFSATPALYILTPFNPIRKLAIKI>L<VHSLFNMLIMCTILTNCVFMTMS------N150
SCN3AKGKAIFRFSATSALYILTPLNPVRKIAIKI>L<VHSLFSMLIMCTILTNCVFMTLS------N149
SCN4AKGKAIFRFSATPALYLLSPFSVVRRGAIKV>L<IHALFSMFIMITILTNCVFMTMS------D152
SCN7AKNRTIFRFNAASILCTLSPFNCIRRTTIKV>L<VHPFFQLFILISVLIDCVFMSLT------N139
SCN8ARGKTLFRFSATPALYILSPFNLIRRIAIKI>L<IHSVFSMIIMCTILTNCVFMTFS------N153
SCN9AKGKTIFRFNATPALYMLSPFSPLRRISIKI>L<VHSLFSMLIMCTILTNCIFMTMN------N147
SCN10AKGRTISRFSATRALWLFSPFNLIRRTAIKV>S<VHSWFSLFITVTILVNCVCMTRT------D151
SCN11ARKRTIYRFSAKHALFIFGPFNSIRSLAIRV>S<VHSLFSMFIIGTVIINCVFMATGPA-K--N153
CACNA1AIPVRQNCLTVNRSLFLFSEDNVVRKYAKKI>T<EWPPFEYMILATIIANCIVLALEQHLPDDD125
CACNA1BIPVKQNCFTVNRSLFVFSEDNVVRKYAKRI>T<EWPPFEYMILATIIANCIVLALEQHLPDGD122
CACNA1CKQGSTTATRPPRALLCLTLKNPIRRACISI>V<EWKPFEIIILLTIFANCVALAIYIPFPEDD151
CACNA1DKQGNSSNSRPARALFCLSLNNPIRRACISI>V<EWKPFDIFILLAIFANCVALAIYIPFPEDD153
CACNA1EIPVRQNCFTVNRSLFIFGEDNIVRKYAKKL>I<DWPPFEYMILATIIANCIVLALEQHLPEDD116
CACNA1FTVAVASAQRSPRALFCLTLANPLRRSCISI>V<EWKPFDILILLTIFANCVALGVYIPFPEDD119
CACNA1GAEGLPYPALAPVVFFYLSQDSRPRSWCLRT>V<CNPWFERISMLVILLNCVTLGMFRPCEDIA108
CACNA1HEQRVPYPALAATVFFCLGQTTRPRSWCLRL>V<CNPWFEHVSMLVIMLNCVTLGMFRPCEDVE127
CACNA1IDPHVPHPDLAPIAFFCLRQTTSPRNWCIKM>V<CNPWFECVSMLVILLNCVTLGMYQPCDDMD106
CACNA1SKPVPEILPRPPRALFCLTLENPLRKACISI>V<EWKPFETIILLTIFANCVALAVYLPMPEDD78
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 128 for SCN5A.