Paralogue Annotation for SCN5A residue 1853

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1853
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1853

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1867TGeneralized epilepsy with febrile seizures plusHigh8 18251839

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.



SCN5AK--PNQI---SLINMDLPMVSGD-RIHCMD>I<LFAFTKRVLGES--G---EMDALKIQMEEK1878
SCN1AQ--PNKL---QLIAMDLPMVSGD-RIHCLD>I<LFAFTKRVLGES--G---EMDALRIQMEER1892
SCN2AK--PNKV---QLIAMDLPMVSGD-RIHCLD>I<LFAFTKRVLGES--G---EMDALRIQMEER1882
SCN3AK--PNKV---QLIAMDLPMVSGD-RIHCLD>I<LFAFTKRVLGES--G---EMDALRIQMEDR1877
SCN4AK--PNKI---KLITLDLPMVPGD-KIHCLD>I<LFALTKEVLGDS--G---EMDALKQTMEEK1704
SCN7AK--PNKG---QLIALDLPMAVGD-RIHCLD>I<LLAFTKRVMGQD--V---RMEKVVSEIESG1602
SCN8AK--PNTI---ELIAMDLPMVSGD-RIHCLD>I<LFAFTKRVLGDS--G---ELDILRQQMEER1872
SCN9AK--PNKV---QLIAMDLPMVSGD-RIHCLD>I<LFAFTKRVLGES--G---EMDSLRSQMEER1855
SCN10AK--PNRN---ILIQMDLPLVPGD-KIHCLD>I<LFAFTKNVLGES--G---ELDSLKANMEEK1828
SCN11AK--PNKY---QFLVMDLPMVSED-RLHCMD>I<LFAFTARVLGGS--D---GLDSMKAMMEEK1710
CACNA1AKKCPHRVACKRLLRMDLPVADD-NTVHFNS>T<LMALIRTALDIKIAKGGADKQQMDAELRKE1926
CACNA1BKKCPARVAYKRLVRMNMPISNEDMTVHFTS>T<LMALIRTALEIKLAPAGTKQHQCDAELRKE1825
CACNA1CKLCPHRVACKRLVSMNMPLNSDG-TVMFNA>T<LFALVRTALRIKTEG---NLEQANEELRAI1588
CACNA1DKLCPHRVACKRLVAMNMPLNSDG-TVMFNA>T<LFALVRTALKIKTEG---NLEQANEELRAV1596
CACNA1EKRCPSKVAYKRLVLMNMPVAED-MTVHFTS>T<LMALIRTALDIKIAKGGADRQQLDSELQKE1838
CACNA1FKLCPHRVACKRLVAMNMPLNSDG-TVTFNA>T<LFALVRTSLKIKTEG---NLEQANQELRIV1553
CACNA1GSPKPGAL---------HPAAHA-RSASHFS>L<EHPTDRQLFDTI---S--LLIQGSLEWELK1948
CACNA1HSPG--AR--------DAPN----------->-<---LVARKV----------------SVSRM1924
CACNA1IGDT--EG---GLCRRCYSPAQE-N--LWLD>S<VSLIIKDSL----------------EGELT1819
CACNA1SKFCPHRVACKRLVGMNMPLNSDG-TVTFNA>T<LFALVRTALKIKTEG---NFEQANEELRAI1493
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1853 for SCN5A.