No paralogue variants have been mapped to residue 452 for SCN5A.
SCN5A | FQEAMEMLKK------------EHEALTIR>G<VDTVS---------------------RSSL | 461 |
SCN1A | FQQMIEQLKK------------QQEAAQQA>A<TATAS----EHSREPSAAGRL----SDSSS | 484 |
SCN2A | FQQMLEQLKK------------QQEEAQAA>A<AAASA-----ESRDFSGAGGIGVF-SESSS | 488 |
SCN3A | FQQMLEQLKK------------QQEEAQAV>A<AASAA------SRDFSGIGGLGEL-LESSS | 486 |
SCN4A | FQQMLEKFKK------------HQEELEKA>K<AAQAL------------------------- | 491 |
SCN7A | FQQTGKELQE------------GNETDEAK>-<------------------------------ | 432 |
SCN8A | FKAMLEQLKK------------QQEEAQAA>A<MATSAGTVSEDAIEEEGEEGG-GS-PRSSS | 478 |
SCN9A | FQQMLDRLKK------------EQEEAEAI>A<AAAAE----YTSIRRSRIMGL----SESSS | 463 |
SCN10A | FQEALEMLRK------------EQEVLAAL>G<IDTTS---------------------LHSH | 445 |
SCN11A | FQEAQQLLKE------------EKEALVAM>G<IDRSS---------------------LTSL | 448 |
CACNA1A | QQQIERELNG------------YMEWISKA>-<EE-----------------VILAEDETD-- | 410 |
CACNA1B | QQQIERELNG------------YLEWIFKA>-<EE-----------------VMLAEEDRN-- | 406 |
CACNA1C | KQQLEEDLKG------------YLDWITQA>-<ED-----------------IDPENEDEG-- | 455 |
CACNA1D | KQQLEEDLKG------------YLDWITQA>-<ED-----------------IDPENEEEG-- | 456 |
CACNA1E | QQQIERELNG------------YRAWIDKA>-<EE-----------------VMLAEENKN-- | 401 |
CACNA1F | KQQMEEDLRG------------YLDWITQA>-<EE-----------------LDMEDPSAD-- | 422 |
CACNA1G | LSNASTLASFSEPGSCYEELLKYLVYILRK>A<AR-------------RLAQVSRA--AGVR- | 461 |
CACNA1H | LSNDSTLASFSEPGSCYEELLKYVGHIFRK>V<KR-------------RSLRLYARW-QSRW- | 486 |
CACNA1I | LS-SSTVASYAEPGDCYEEIFQYVCHILRK>A<KR-------------RALGLYQAL-QSRR- | 464 |
CACNA1S | KQQLDEDLRG------------YMSWITQG>-<EV-----------------MDVEDFREG-- | 384 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Gly452Asp | c.1355G>A | Unknown | SIFT: Polyphen: |