Paralogue Annotation for SCN5A residue 467

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 467
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 467

No paralogue variants have been mapped to residue 467 for SCN5A.



SCN5A---------------------RSSLEMSPL>A<PVNSHERRSKRRKR----MS-SGTE-ECGE491
SCN1A----EHSREPSAAGRL----SDSSSEASKL>S<SKSAKERRNRRKKRKQKEQS-GGEE-KDE-517
SCN2A-----ESRDFSGAGGIGVF-SESSSVASKL>S<SKSEKELKNRRKKKKQKEQS-GEEE-KND-521
SCN3A------SRDFSGIGGLGEL-LESSSEASKL>S<SKSAKEWRNRRKKRRQREHL-EGNN-KGER520
SCN4A------------------------------>-<-------------------E-GGEA-DGD-499
SCN7A------------------------------>-<------------------------------
SCN8AGTVSEDAIEEEGEEGG-GS-PRSSSEISKL>S<SKSAKERRNRRKKRKQKELS-EGEE-KGDP512
SCN9A----YTSIRRSRIMGL----SESSSETSKL>S<SKSAKERRNRRKKKNQKKLS-SGEE-KGDA497
SCN10A---------------------LHSHNGSPL>T<SKNASERRHRIKPRV----S-EGST-ED--473
SCN11A---------------------LTSLETSYF>T<PKKRKLFGNKKRKS----FF-LRES-GKD-477
CACNA1A--------------VILAEDETD------->-<----------------------------GE412
CACNA1B--------------VMLAEEDRN------->-<----------------------------AE408
CACNA1C--------------IDPENEDEG------->-<----------------------------MD457
CACNA1D--------------IDPENEEEG------->-<----------------------------GE458
CACNA1E--------------VMLAEENKN------->-<----------------------------AG403
CACNA1F--------------LDMEDPSAD------->-<----------------DNLG-SM-----AE430
CACNA1G----------RLAQVSRA--AGVR------>-<----------------VGLLSSPAP-LGGQ474
CACNA1H----------RSLRLYARW-QSRW------>-<----------------RK-KVDPSA-VQGQ498
CACNA1I----------RALGLYQAL-QSRR------>-<----------------QA-L-GPEAPAPAK476
CACNA1S--------------MDVEDFREG------->-<----------------------------KL386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ala467Serc.1399G>T UnknownSIFT:
Polyphen: