Paralogue Annotation for SCN5A residue 1841

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1841
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1841

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1855LDravet syndrome C ?High8 21248271

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.



SCN5AADALSEPLR--IAK--PNQI---SLINMDL>P<MVSGD-RIHCMDILFAFTKRVLGES--G--1866
SCN1AAAALEPPLN--LPQ--PNKL---QLIAMDL>P<MVSGD-RIHCLDILFAFTKRVLGES--G--1880
SCN2AADALDPPLL--IAK--PNKV---QLIAMDL>P<MVSGD-RIHCLDILFAFTKRVLGES--G--1870
SCN3AAAALDPPLL--IAK--PNKV---QLIAMDL>P<MVSGD-RIHCLDILFAFTKRVLGES--G--1865
SCN4AVDTLQEPLR--IAK--PNKI---KLITLDL>P<MVPGD-KIHCLDILFALTKEVLGDS--G--1692
SCN7AAAALDPPLF--MAK--PNKG---QLIALDL>P<MAVGD-RIHCLDILLAFTKRVMGQD--V--1590
SCN8AADALEHPLR--VPK--PNTI---ELIAMDL>P<MVSGD-RIHCLDILFAFTKRVLGDS--G--1860
SCN9AAAALDPPLL--IAK--PNKV---QLIAMDL>P<MVSGD-RIHCLDILFAFTKRVLGES--G--1843
SCN10AADTLSGPLR--IPK--PNRN---ILIQMDL>P<LVPGD-KIHCLDILFAFTKNVLGES--G--1816
SCN11AADALPEPLR--VAK--PNKY---QFLVMDL>P<MVSED-RLHCMDILFAFTARVLGGS--D--1698
CACNA1ALRVISPPLG--LGKKCPHRVACKRLLRMDL>P<VADD-NTVHFNSTLMALIRTALDIKIAKGG1913
CACNA1BLKHMSPPLG--LGKKCPARVAYKRLVRMNM>P<ISNEDMTVHFTSTLMALIRTALEIKLAPAG1812
CACNA1CLRRIQPPLG--FGKLCPHRVACKRLVSMNM>P<LNSDG-TVMFNATLFALVRTALRIKTEG--1576
CACNA1DLRRIQPPLG--FGKLCPHRVACKRLVAMNM>P<LNSDG-TVMFNATLFALVRTALKIKTEG--1584
CACNA1ELTLMSPPLG--LGKRCPSKVAYKRLVLMNM>P<VAED-MTVHFTSTLMALIRTALDIKIAKGG1825
CACNA1FLRRIQPPLG--FGKLCPHRVACKRLVAMNM>P<LNSDG-TVTFNATLFALVRTSLKIKTEG--1541
CACNA1GWPGVEGPDS--PDSPKPGAL---------H>P<AAHA-RSASHFSLEHPTDRQLFDTI---S-1936
CACNA1H------PLP--QESPG--AR--------DA>P<N---------------LVARKV--------1919
CACNA1IGR---GPGGAGGGGDT--EG---GLCRRCY>S<PAQE-N--LWLDSVSLIIKDSL--------1814
CACNA1SLRRIQPPLG--FGKFCPHRVACKRLVGMNM>P<LNSDG-TVTFNATLFALVRTALKIKTEG--1481
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1841 for SCN5A.