Paralogue Annotation for SCN5A residue 485

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 485
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 485

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HP492SEpilepsy, childhood absenceLow2 17156077

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.



SCN5ASLEMSPLAPVNSHERRSKRRKR----MS-S>G<TE-ECGEDRLPKSDSEDGPRAM--N-----507
SCN1ASSEASKLSSKSAKERRNRRKKRKQKEQS-G>G<EE-KDE-DEFQKSESEDSIRRK--GFRFSI538
SCN2ASSVASKLSSKSEKELKNRRKKKKQKEQS-G>E<EE-KND--RVRKSESEDSIRRK--GFRFSL541
SCN3ASSEASKLSSKSAKEWRNRRKKRRQREHL-E>G<NN-KGERDSFPKSESEDSVKRS--SFLFSM541
SCN4A---------------------------E-G>G<EA-DGD------------------------499
SCN7A------------------------------>-<------------------------------
SCN8ASSEISKLSSKSAKERRNRRKKRKQKELS-E>G<EE-KGDPEKVFKSESEDGMRRK--AFRLP-532
SCN9ASSETSKLSSKSAKERRNRRKKKNQKKLS-S>G<EE-KGDAEKLSKSESEDSIRRK--SFHLGV518
SCN10ASHNGSPLTSKNASERRHRIKPRV----S-E>G<ST-ED--NKSPRSDPYN-Q-----------484
SCN11ASLETSYFTPKKRKLFGNKKRKS----FF-L>R<ES-GKD--QPPGSDSDE-------------486
CACNA1A------------------------------>-<-----GEQRH--------------------415
CACNA1B------------------------------>-<-----AEEKS--------------------411
CACNA1C------------------------------>-<-----MD-----------------------457
CACNA1D------------------------------>-<-----GE-----------------------458
CACNA1E------------------------------>-<-----AGTSA--------------------406
CACNA1F------------------------DNLG-S>M<-----AE-----------------------430
CACNA1GR-----------------------VGLLSS>P<AP-LGGQETQPSSSCSRSHRRL--SV-HHL494
CACNA1HW-----------------------RK-KVD>P<SA-VQGQGPGHRQRRAG---RHTASVHHLV518
CACNA1IR-----------------------QA-L-G>P<EAPAPAK-PGPHAKEPR---HYHGKTKGQG495
CACNA1S------------------------------>-<-----KL-----------------------386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 485 for SCN5A.