No paralogue variants have been mapped to residue 468 for SCN5A.
SCN5A | --------------------RSSLEMSPLA>P<VNSHERRSKRRKR----MS-SGTE-ECGED | 492 |
SCN1A | ---EHSREPSAAGRL----SDSSSEASKLS>S<KSAKERRNRRKKRKQKEQS-GGEE-KDE-D | 518 |
SCN2A | ----ESRDFSGAGGIGVF-SESSSVASKLS>S<KSEKELKNRRKKKKQKEQS-GEEE-KND-- | 521 |
SCN3A | -----SRDFSGIGGLGEL-LESSSEASKLS>S<KSAKEWRNRRKKRRQREHL-EGNN-KGERD | 521 |
SCN4A | ------------------------------>-<------------------E-GGEA-DGD-- | 499 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | TVSEDAIEEEGEEGG-GS-PRSSSEISKLS>S<KSAKERRNRRKKRKQKELS-EGEE-KGDPE | 513 |
SCN9A | ---YTSIRRSRIMGL----SESSSETSKLS>S<KSAKERRNRRKKKNQKKLS-SGEE-KGDAE | 498 |
SCN10A | --------------------LHSHNGSPLT>S<KNASERRHRIKPRV----S-EGST-ED--N | 474 |
SCN11A | --------------------LTSLETSYFT>P<KKRKLFGNKKRKS----FF-LRES-GKD-- | 477 |
CACNA1A | -------------VILAEDETD-------->-<---------------------------GEQ | 413 |
CACNA1B | -------------VMLAEEDRN-------->-<---------------------------AEE | 409 |
CACNA1C | -------------IDPENEDEG-------->-<---------------------------MD- | 457 |
CACNA1D | -------------IDPENEEEG-------->-<---------------------------GE- | 458 |
CACNA1E | -------------VMLAEENKN-------->-<---------------------------AGT | 404 |
CACNA1F | -------------LDMEDPSAD-------->-<---------------DNLG-SM-----AE- | 430 |
CACNA1G | ---------RLAQVSRA--AGVR------->-<---------------VGLLSSPAP-LGGQE | 475 |
CACNA1H | ---------RSLRLYARW-QSRW------->-<---------------RK-KVDPSA-VQGQG | 499 |
CACNA1I | ---------RALGLYQAL-QSRR------->-<---------------QA-L-GPEAPAPAK- | 476 |
CACNA1S | -------------MDVEDFREG-------->-<---------------------------KL- | 386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P468L | c.1403C>T | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015 129(4):793-800. doi: 10.1007/s00414-014-1105-y. 25467552 |