Paralogue Annotation for SCN5A residue 1861

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1861
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1861

No paralogue variants have been mapped to residue 1861 for SCN5A.



SCN5A--SLINMDLPMVSGD-RIHCMDILFAFTKR>V<LGES--G---EMDALKIQMEEKFMA---AN1883
SCN1A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEERFMA---SN1897
SCN2A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEERFMA---SN1887
SCN3A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDALRIQMEDRFMA---SN1882
SCN4A--KLITLDLPMVPGD-KIHCLDILFALTKE>V<LGDS--G---EMDALKQTMEEKFMA---AN1709
SCN7A--QLIALDLPMAVGD-RIHCLDILLAFTKR>V<MGQD--V---RMEKVVSEIESGFLL---AN1607
SCN8A--ELIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGDS--G---ELDILRQQMEERFVA---SN1877
SCN9A--QLIAMDLPMVSGD-RIHCLDILFAFTKR>V<LGES--G---EMDSLRSQMEERFMS---AN1860
SCN10A--ILIQMDLPLVPGD-KIHCLDILFAFTKN>V<LGES--G---ELDSLKANMEEKFMA---TN1833
SCN11A--QFLVMDLPMVSED-RLHCMDILFAFTAR>V<LGGS--D---GLDSMKAMMEEKFME---AN1715
CACNA1ACKRLLRMDLPVADD-NTVHFNSTLMALIRT>A<LDIKIAKGGADKQQMDAELRKEMMAIW-PN1933
CACNA1BYKRLVRMNMPISNEDMTVHFTSTLMALIRT>A<LEIKLAPAGTKQHQCDAELRKEISVVW-AN1832
CACNA1CCKRLVSMNMPLNSDG-TVMFNATLFALVRT>A<LRIKTEG---NLEQANEELRAIIKKIW-KR1595
CACNA1DCKRLVAMNMPLNSDG-TVMFNATLFALVRT>A<LKIKTEG---NLEQANEELRAVIKKIW-KK1603
CACNA1EYKRLVLMNMPVAED-MTVHFTSTLMALIRT>A<LDIKIAKGGADRQQLDSELQKETLAIW-PH1845
CACNA1FCKRLVAMNMPLNSDG-TVTFNATLFALVRT>S<LKIKTEG---NLEQANQELRIVIKKIW-KR1560
CACNA1G--------HPAAHA-RSASHFSLEHPTDRQ>L<FDTI---S--LLIQGSLEWELKLMDEL-AG1955
CACNA1H-------DAPN---------------LVAR>K<V----------------SVSRML-SLPNDS1931
CACNA1I--GLCRRCYSPAQE-N--LWLDSVSLIIKD>S<L----------------EGELTIIDNL-SG1826
CACNA1SCKRLVGMNMPLNSDG-TVTFNATLFALVRT>A<LKIKTEG---NFEQANEELRAIIKKIW-KR1500
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1861Ic.5581G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283