Paralogue Annotation for SCN5A residue 456

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 456
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 456

No paralogue variants have been mapped to residue 456 for SCN5A.



SCN5AMEMLKK------------EHEALTIRGVDT>V<S---------------------RSSLEMSP465
SCN1AIEQLKK------------QQEAAQQAATAT>A<S----EHSREPSAAGRL----SDSSSEASK488
SCN2ALEQLKK------------QQEEAQAAAAAA>S<A-----ESRDFSGAGGIGVF-SESSSVASK492
SCN3ALEQLKK------------QQEEAQAVAAAS>A<A------SRDFSGIGGLGEL-LESSSEASK490
SCN4ALEKFKK------------HQEELEKAKAAQ>A<L-----------------------------491
SCN7AGKELQE------------GNETDEAK---->-<------------------------------432
SCN8ALEQLKK------------QQEEAQAAAMAT>S<AGTVSEDAIEEEGEEGG-GS-PRSSSEISK482
SCN9ALDRLKK------------EQEEAEAIAAAA>A<E----YTSIRRSRIMGL----SESSSETSK467
SCN10ALEMLRK------------EQEVLAALGIDT>T<S---------------------LHSHNGSP449
SCN11AQQLLKE------------EKEALVAMGIDR>S<S---------------------LTSLETSY452
CACNA1AERELNG------------YMEWISKA-EE->-<---------------VILAEDETD------410
CACNA1BERELNG------------YLEWIFKA-EE->-<---------------VMLAEEDRN------406
CACNA1CEEDLKG------------YLDWITQA-ED->-<---------------IDPENEDEG------455
CACNA1DEEDLKG------------YLDWITQA-ED->-<---------------IDPENEEEG------456
CACNA1EERELNG------------YRAWIDKA-EE->-<---------------VMLAEENKN------401
CACNA1FEEDLRG------------YLDWITQA-EE->-<---------------LDMEDPSAD------422
CACNA1GSTLASFSEPGSCYEELLKYLVYILRKAAR->-<-----------RLAQVSRA--AGVR-----461
CACNA1HSTLASFSEPGSCYEELLKYVGHIFRKVKR->-<-----------RSLRLYARW-QSRW-----486
CACNA1ISTVASYAEPGDCYEEIFQYVCHILRKAKR->-<-----------RALGLYQAL-QSRR-----464
CACNA1SDEDLRG------------YMSWITQG-EV->-<---------------MDVEDFREG------384
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V456Mc.1366G>A Putative BenignSIFT:
Polyphen:
p.V456Lc.1366G>T Putative BenignSIFT: tolerated
Polyphen: benign