Paralogue Annotation for SCN5A residue 1802

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1802
Reference Amino Acid: D - Aspartate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1802

No paralogue variants have been mapped to residue 1802 for SCN5A.



SCN5ALENFSVATEESTEPLSEDDFDMFYEIWEKF>D<PEATQFIEYSVLSDFADALSEPLR--IAK-1829
SCN1ALENFSVATEESAEPLSEDDFEMFYEVWEKF>D<PDATQFMEFEKLSQFAAALEPPLN--LPQ-1843
SCN2ALENFSVATEESAEPLSEDDFEMFYEVWEKF>D<PDATQFIEFAKLSDFADALDPPLL--IAK-1833
SCN3ALENFSVATEESAEPLSEDDFEMFYEVWEKF>D<PDATQFIEFSKLSDFAAALDPPLL--IAK-1828
SCN4ALENFNVATEESSEPLGEDDFEMFYETWEKF>D<PDATQFIAYSRLSDFVDTLQEPLR--IAK-1655
SCN7AMEFLNIASKKKNKTLSEDDFRKFFQVWKRF>D<PDRTQYIDSSKLSDFAAALDPPLF--MAK-1553
SCN8ALENFSVATEESADPLSEDDFETFYEIWEKF>D<PDATQFIEYCKLADFADALEHPLR--VPK-1823
SCN9ALENFSVATEESTEPLSEDDFEMFYEVWEKF>D<PDATQFIEFSKLSDFAAALDPPLL--IAK-1806
SCN10ALENFNVATEESTEPLSEDDFDMFYETWEKF>D<PEATQFITFSALSDFADTLSGPLR--IPK-1779
SCN11ALENFNTATEESEDPLGEDDFDIFYEVWEKF>D<PEATQFIKYSALSDFADALPEPLR--VAK-1661
CACNA1AMDNFEYLTRDSSI-LGPHHLDEYVRVWAEY>D<PAACGRIHYKDMYSLLRVISPPLG--LGKK1868
CACNA1BMDNFEYLTRDSSI-LGPHHLDEFIRVWAEY>D<PAACGRISYNDMFEMLKHMSPPLG--LGKK1766
CACNA1CMDNFDYLTRDWSI-LGPHHLDEFKRIWAEY>D<PEAKGRIKHLDVVTLLRRIQPPLG--FGKL1533
CACNA1DMDNFDYLTRDWSI-LGPHHLDEFKRIWSEY>D<PEAKGRIKHLDVVTLLRRIQPPLG--FGKL1541
CACNA1EMDNFEYLTRDSSI-LGPHHLDEFVRVWAEY>D<RAACGRIHYTEMYEMLTLMSPPLG--LGKR1780
CACNA1FMDNFDYLTRDWSI-LGPHHLDEFKRIWSEY>D<PGAKGRIKHLDVVALLRRIQPPLG--FGKL1498
CACNA1GMKHLEESNKEAKE---EAELEAELELEMKT>-<LSPQPHSPLGSPF-LWPGVEGPDS--PDSP1904
CACNA1HMKHLEESNKEARE---DAELDAEIELEMAQ>G<PGSARRVDADRP---------PLP--QESP1906
CACNA1IMKHLDDSNKEAQE---DAEMDAELELEMAH>G<LGPGPRLPTGSPGAPGR---GPGGAGGGGD1784
CACNA1SMDNFDYLTRDWSI-LGPHHLDEFKAIWAEY>D<PEAKGRIKHLDVVTLLRRIQPPLG--FGKF1438
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1802Gc.5405A>G Inherited ArrhythmiaLQTSrs199473318SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online. Hum Mutat. 1998 12(1):72. 10627139