Paralogue Annotation for SCN5A residue 486

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 486
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 486

No paralogue variants have been mapped to residue 486 for SCN5A.



SCN5ALEMSPLAPVNSHERRSKRRKR----MS-SG>T<E-ECGEDRLPKSDSEDGPRAM--N------507
SCN1ASEASKLSSKSAKERRNRRKKRKQKEQS-GG>E<E-KDE-DEFQKSESEDSIRRK--GFRFSIE539
SCN2ASVASKLSSKSEKELKNRRKKKKQKEQS-GE>E<E-KND--RVRKSESEDSIRRK--GFRFSLE542
SCN3ASEASKLSSKSAKEWRNRRKKRRQREHL-EG>N<N-KGERDSFPKSESEDSVKRS--SFLFSMD542
SCN4A--------------------------E-GG>E<A-DGD-------------------------499
SCN7A------------------------------>-<------------------------------
SCN8ASEISKLSSKSAKERRNRRKKRKQKELS-EG>E<E-KGDPEKVFKSESEDGMRRK--AFRLP-D533
SCN9ASETSKLSSKSAKERRNRRKKKNQKKLS-SG>E<E-KGDAEKLSKSESEDSIRRK--SFHLGVE519
SCN10AHNGSPLTSKNASERRHRIKPRV----S-EG>S<T-ED--NKSPRSDPYN-Q------------484
SCN11ALETSYFTPKKRKLFGNKKRKS----FF-LR>E<S-GKD--QPPGSDSDE--------------486
CACNA1A------------------------------>-<----GEQRH---------------------415
CACNA1B------------------------------>-<----AEEKS---------------------411
CACNA1C------------------------------>-<----MD------------------------457
CACNA1D------------------------------>-<----GE------------------------458
CACNA1E------------------------------>-<----AGTSA---------------------406
CACNA1F-----------------------DNLG-SM>-<----AE------------------------430
CACNA1G-----------------------VGLLSSP>A<P-LGGQETQPSSSCSRSHRRL--SV-HHLV495
CACNA1H-----------------------RK-KVDP>S<A-VQGQGPGHRQRRAG---RHTASVHHLVY519
CACNA1I-----------------------QA-L-GP>E<APAPAK-PGPHAKEPR---HYHGKTKGQGD496
CACNA1S------------------------------>-<----KL------------------------386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T486Ac.1456A>G Putative BenignSIFT:
Polyphen: