Paralogue Annotation for SCN5A residue 1857

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1857
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1857

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AF1689LPainful peripheral neuropathyHigh8 24776970

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.



SCN5ANQI---SLINMDLPMVSGD-RIHCMDILFA>F<TKRVLGES--G---EMDALKIQMEEKFMA-1881
SCN1ANKL---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDALRIQMEERFMA-1895
SCN2ANKV---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDALRIQMEERFMA-1885
SCN3ANKV---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDALRIQMEDRFMA-1880
SCN4ANKI---KLITLDLPMVPGD-KIHCLDILFA>L<TKEVLGDS--G---EMDALKQTMEEKFMA-1707
SCN7ANKG---QLIALDLPMAVGD-RIHCLDILLA>F<TKRVMGQD--V---RMEKVVSEIESGFLL-1605
SCN8ANTI---ELIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGDS--G---ELDILRQQMEERFVA-1875
SCN9ANKV---QLIAMDLPMVSGD-RIHCLDILFA>F<TKRVLGES--G---EMDSLRSQMEERFMS-1858
SCN10ANRN---ILIQMDLPLVPGD-KIHCLDILFA>F<TKNVLGES--G---ELDSLKANMEEKFMA-1831
SCN11ANKY---QFLVMDLPMVSED-RLHCMDILFA>F<TARVLGGS--D---GLDSMKAMMEEKFME-1713
CACNA1AHRVACKRLLRMDLPVADD-NTVHFNSTLMA>L<IRTALDIKIAKGGADKQQMDAELRKEMMAI1930
CACNA1BARVAYKRLVRMNMPISNEDMTVHFTSTLMA>L<IRTALEIKLAPAGTKQHQCDAELRKEISVV1829
CACNA1CHRVACKRLVSMNMPLNSDG-TVMFNATLFA>L<VRTALRIKTEG---NLEQANEELRAIIKKI1592
CACNA1DHRVACKRLVAMNMPLNSDG-TVMFNATLFA>L<VRTALKIKTEG---NLEQANEELRAVIKKI1600
CACNA1ESKVAYKRLVLMNMPVAED-MTVHFTSTLMA>L<IRTALDIKIAKGGADRQQLDSELQKETLAI1842
CACNA1FHRVACKRLVAMNMPLNSDG-TVTFNATLFA>L<VRTSLKIKTEG---NLEQANQELRIVIKKI1557
CACNA1GGAL---------HPAAHA-RSASHFSLEHP>T<DRQLFDTI---S--LLIQGSLEWELKLMDE1952
CACNA1H-AR--------DAPN--------------->L<VARKV----------------SVSRML-SL1927
CACNA1I-EG---GLCRRCYSPAQE-N--LWLDSVSL>I<IKDSL----------------EGELTIIDN1823
CACNA1SHRVACKRLVGMNMPLNSDG-TVTFNATLFA>L<VRTALKIKTEG---NFEQANEELRAIIKKI1497
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1857 for SCN5A.