Paralogue Annotation for SCN5A residue 127

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 127
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 127

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI124NDravet syndromeHigh9 18930999, 20522430
CACNA1FI88NCongenital stationary night blindnessHigh9 25307992

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.



SCN5ANKGKTIFRFSATNALYVLSPFHPIRRAAVK>I<LVHSLFNMLIMCTILTNCVFMAQH------151
SCN1ANKGKAIFRFSATSALYILTPFNPLRKIAIK>I<LVHSLFSMLIMCTILTNCVFMTMS------148
SCN2ANKGKAISRFSATPALYILTPFNPIRKLAIK>I<LVHSLFNMLIMCTILTNCVFMTMS------149
SCN3ANKGKAIFRFSATSALYILTPLNPVRKIAIK>I<LVHSLFSMLIMCTILTNCVFMTLS------148
SCN4ANKGKAIFRFSATPALYLLSPFSVVRRGAIK>V<LIHALFSMFIMITILTNCVFMTMS------151
SCN7ANKNRTIFRFNAASILCTLSPFNCIRRTTIK>V<LVHPFFQLFILISVLIDCVFMSLT------138
SCN8ANRGKTLFRFSATPALYILSPFNLIRRIAIK>I<LIHSVFSMIIMCTILTNCVFMTFS------152
SCN9ANKGKTIFRFNATPALYMLSPFSPLRRISIK>I<LVHSLFSMLIMCTILTNCIFMTMN------146
SCN10ANKGRTISRFSATRALWLFSPFNLIRRTAIK>V<SVHSWFSLFITVTILVNCVCMTRT------150
SCN11ANRKRTIYRFSAKHALFIFGPFNSIRSLAIR>V<SVHSLFSMFIIGTVIINCVFMATGPA-K--152
CACNA1APIPVRQNCLTVNRSLFLFSEDNVVRKYAKK>I<TEWPPFEYMILATIIANCIVLALEQHLPDD124
CACNA1BPIPVKQNCFTVNRSLFVFSEDNVVRKYAKR>I<TEWPPFEYMILATIIANCIVLALEQHLPDG121
CACNA1CKKQGSTTATRPPRALLCLTLKNPIRRACIS>I<VEWKPFEIIILLTIFANCVALAIYIPFPED150
CACNA1DKKQGNSSNSRPARALFCLSLNNPIRRACIS>I<VEWKPFDIFILLAIFANCVALAIYIPFPED152
CACNA1EPIPVRQNCFTVNRSLFIFGEDNIVRKYAKK>L<IDWPPFEYMILATIIANCIVLALEQHLPED115
CACNA1FKTVAVASAQRSPRALFCLTLANPLRRSCIS>I<VEWKPFDILILLTIFANCVALGVYIPFPED118
CACNA1GEAEGLPYPALAPVVFFYLSQDSRPRSWCLR>T<VCNPWFERISMLVILLNCVTLGMFRPCEDI107
CACNA1HEEQRVPYPALAATVFFCLGQTTRPRSWCLR>L<VCNPWFEHVSMLVIMLNCVTLGMFRPCEDV126
CACNA1IADPHVPHPDLAPIAFFCLRQTTSPRNWCIK>M<VCNPWFECVSMLVILLNCVTLGMYQPCDDM105
CACNA1SKKPVPEILPRPPRALFCLTLENPLRKACIS>I<VEWKPFETIILLTIFANCVALAVYLPMPED77
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 127 for SCN5A.