Paralogue Annotation for SCN5A residue 1852

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1852
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1852

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD1866YGeneralized epilepsy with febrile seizures plusHigh7 15525788

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.



SCN5AAK--PNQI---SLINMDLPMVSGD-RIHCM>D<ILFAFTKRVLGES--G---EMDALKIQMEE1877
SCN1APQ--PNKL---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDALRIQMEE1891
SCN2AAK--PNKV---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDALRIQMEE1881
SCN3AAK--PNKV---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDALRIQMED1876
SCN4AAK--PNKI---KLITLDLPMVPGD-KIHCL>D<ILFALTKEVLGDS--G---EMDALKQTMEE1703
SCN7AAK--PNKG---QLIALDLPMAVGD-RIHCL>D<ILLAFTKRVMGQD--V---RMEKVVSEIES1601
SCN8APK--PNTI---ELIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGDS--G---ELDILRQQMEE1871
SCN9AAK--PNKV---QLIAMDLPMVSGD-RIHCL>D<ILFAFTKRVLGES--G---EMDSLRSQMEE1854
SCN10APK--PNRN---ILIQMDLPLVPGD-KIHCL>D<ILFAFTKNVLGES--G---ELDSLKANMEE1827
SCN11AAK--PNKY---QFLVMDLPMVSED-RLHCM>D<ILFAFTARVLGGS--D---GLDSMKAMMEE1709
CACNA1AGKKCPHRVACKRLLRMDLPVADD-NTVHFN>S<TLMALIRTALDIKIAKGGADKQQMDAELRK1925
CACNA1BGKKCPARVAYKRLVRMNMPISNEDMTVHFT>S<TLMALIRTALEIKLAPAGTKQHQCDAELRK1824
CACNA1CGKLCPHRVACKRLVSMNMPLNSDG-TVMFN>A<TLFALVRTALRIKTEG---NLEQANEELRA1587
CACNA1DGKLCPHRVACKRLVAMNMPLNSDG-TVMFN>A<TLFALVRTALKIKTEG---NLEQANEELRA1595
CACNA1EGKRCPSKVAYKRLVLMNMPVAED-MTVHFT>S<TLMALIRTALDIKIAKGGADRQQLDSELQK1837
CACNA1FGKLCPHRVACKRLVAMNMPLNSDG-TVTFN>A<TLFALVRTSLKIKTEG---NLEQANQELRI1552
CACNA1GDSPKPGAL---------HPAAHA-RSASHF>S<LEHPTDRQLFDTI---S--LLIQGSLEWEL1947
CACNA1HESPG--AR--------DAPN---------->-<----LVARKV----------------SVSR1923
CACNA1IGGDT--EG---GLCRRCYSPAQE-N--LWL>D<SVSLIIKDSL----------------EGEL1818
CACNA1SGKFCPHRVACKRLVGMNMPLNSDG-TVTFN>A<TLFALVRTALKIKTEG---NFEQANEELRA1492
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1852Vc.5555A>T Putative BenignSIFT:
Polyphen: