No paralogue variants have been mapped to residue 456 for SCN5A.
SCN5A | MEMLKK------------EHEALTIRGVDT>V<S---------------------RSSLEMSP | 465 |
SCN1A | IEQLKK------------QQEAAQQAATAT>A<S----EHSREPSAAGRL----SDSSSEASK | 488 |
SCN2A | LEQLKK------------QQEEAQAAAAAA>S<A-----ESRDFSGAGGIGVF-SESSSVASK | 492 |
SCN3A | LEQLKK------------QQEEAQAVAAAS>A<A------SRDFSGIGGLGEL-LESSSEASK | 490 |
SCN4A | LEKFKK------------HQEELEKAKAAQ>A<L----------------------------- | 491 |
SCN7A | GKELQE------------GNETDEAK---->-<------------------------------ | 432 |
SCN8A | LEQLKK------------QQEEAQAAAMAT>S<AGTVSEDAIEEEGEEGG-GS-PRSSSEISK | 482 |
SCN9A | LDRLKK------------EQEEAEAIAAAA>A<E----YTSIRRSRIMGL----SESSSETSK | 467 |
SCN10A | LEMLRK------------EQEVLAALGIDT>T<S---------------------LHSHNGSP | 449 |
SCN11A | QQLLKE------------EKEALVAMGIDR>S<S---------------------LTSLETSY | 452 |
CACNA1A | ERELNG------------YMEWISKA-EE->-<---------------VILAEDETD------ | 410 |
CACNA1B | ERELNG------------YLEWIFKA-EE->-<---------------VMLAEEDRN------ | 406 |
CACNA1C | EEDLKG------------YLDWITQA-ED->-<---------------IDPENEDEG------ | 455 |
CACNA1D | EEDLKG------------YLDWITQA-ED->-<---------------IDPENEEEG------ | 456 |
CACNA1E | ERELNG------------YRAWIDKA-EE->-<---------------VMLAEENKN------ | 401 |
CACNA1F | EEDLRG------------YLDWITQA-EE->-<---------------LDMEDPSAD------ | 422 |
CACNA1G | STLASFSEPGSCYEELLKYLVYILRKAAR->-<-----------RLAQVSRA--AGVR----- | 461 |
CACNA1H | STLASFSEPGSCYEELLKYVGHIFRKVKR->-<-----------RSLRLYARW-QSRW----- | 486 |
CACNA1I | STVASYAEPGDCYEEIFQYVCHILRKAKR->-<-----------RALGLYQAL-QSRR----- | 464 |
CACNA1S | DEDLRG------------YMSWITQG-EV->-<---------------MDVEDFREG------ | 384 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V456M | c.1366G>A | Putative Benign | SIFT: Polyphen: | ||
p.V456L | c.1366G>T | Putative Benign | SIFT: tolerated Polyphen: benign |