Paralogue Annotation for SCN5A residue 1823

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1823
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1823

No paralogue variants have been mapped to residue 1823 for SCN5A.



SCN5AMFYEIWEKFDPEATQFIEYSVLSDFADALS>E<PLR--IAK--PNQI---SLINMDLPMVSGD1846
SCN1AMFYEVWEKFDPDATQFMEFEKLSQFAAALE>P<PLN--LPQ--PNKL---QLIAMDLPMVSGD1860
SCN2AMFYEVWEKFDPDATQFIEFAKLSDFADALD>P<PLL--IAK--PNKV---QLIAMDLPMVSGD1850
SCN3AMFYEVWEKFDPDATQFIEFSKLSDFAAALD>P<PLL--IAK--PNKV---QLIAMDLPMVSGD1845
SCN4AMFYETWEKFDPDATQFIAYSRLSDFVDTLQ>E<PLR--IAK--PNKI---KLITLDLPMVPGD1672
SCN7AKFFQVWKRFDPDRTQYIDSSKLSDFAAALD>P<PLF--MAK--PNKG---QLIALDLPMAVGD1570
SCN8ATFYEIWEKFDPDATQFIEYCKLADFADALE>H<PLR--VPK--PNTI---ELIAMDLPMVSGD1840
SCN9AMFYEVWEKFDPDATQFIEFSKLSDFAAALD>P<PLL--IAK--PNKV---QLIAMDLPMVSGD1823
SCN10AMFYETWEKFDPEATQFITFSALSDFADTLS>G<PLR--IPK--PNRN---ILIQMDLPLVPGD1796
SCN11AIFYEVWEKFDPEATQFIKYSALSDFADALP>E<PLR--VAK--PNKY---QFLVMDLPMVSED1678
CACNA1AEYVRVWAEYDPAACGRIHYKDMYSLLRVIS>P<PLG--LGKKCPHRVACKRLLRMDLPVADD-1888
CACNA1BEFIRVWAEYDPAACGRISYNDMFEMLKHMS>P<PLG--LGKKCPARVAYKRLVRMNMPISNED1787
CACNA1CEFKRIWAEYDPEAKGRIKHLDVVTLLRRIQ>P<PLG--FGKLCPHRVACKRLVSMNMPLNSDG1554
CACNA1DEFKRIWSEYDPEAKGRIKHLDVVTLLRRIQ>P<PLG--FGKLCPHRVACKRLVAMNMPLNSDG1562
CACNA1EEFVRVWAEYDRAACGRIHYTEMYEMLTLMS>P<PLG--LGKRCPSKVAYKRLVLMNMPVAED-1800
CACNA1FEFKRIWSEYDPGAKGRIKHLDVVALLRRIQ>P<PLG--FGKLCPHRVACKRLVAMNMPLNSDG1519
CACNA1GAELELEMKT-LSPQPHSPLGSPF-LWPGVE>G<PDS--PDSPKPGAL---------HPAAHA-1915
CACNA1HAEIELEMAQGPGSARRVDADRP-------->-<PLP--QESPG--AR--------DAPN----1913
CACNA1IAELELEMAHGLGPGPRLPTGSPGAPGR--->G<PGGAGGGGDT--EG---GLCRRCYSPAQE-1799
CACNA1SEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQ>P<PLG--FGKFCPHRVACKRLVGMNMPLNSDG1459
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1823Kc.5467G>A Putative BenignSIFT:
Polyphen: