No paralogue variants have been mapped to residue 463 for SCN5A.
SCN5A | DTVS---------------------RSSLE>M<SPLAPVNSHERRSKRRKR----MS-SGTE- | 487 |
SCN1A | ATAS----EHSREPSAAGRL----SDSSSE>A<SKLSSKSAKERRNRRKKRKQKEQS-GGEE- | 514 |
SCN2A | AASA-----ESRDFSGAGGIGVF-SESSSV>A<SKLSSKSEKELKNRRKKKKQKEQS-GEEE- | 518 |
SCN3A | ASAA------SRDFSGIGGLGEL-LESSSE>A<SKLSSKSAKEWRNRRKKRRQREHL-EGNN- | 516 |
SCN4A | AQAL-------------------------->-<-----------------------E-GGEA- | 496 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ATSAGTVSEDAIEEEGEEGG-GS-PRSSSE>I<SKLSSKSAKERRNRRKKRKQKELS-EGEE- | 508 |
SCN9A | AAAE----YTSIRRSRIMGL----SESSSE>T<SKLSSKSAKERRNRRKKKNQKKLS-SGEE- | 493 |
SCN10A | DTTS---------------------LHSHN>G<SPLTSKNASERRHRIKPRV----S-EGST- | 471 |
SCN11A | DRSS---------------------LTSLE>T<SYFTPKKRKLFGNKKRKS----FF-LRES- | 474 |
CACNA1A | E-----------------VILAEDETD--->-<------------------------------ | 410 |
CACNA1B | E-----------------VMLAEEDRN--->-<------------------------------ | 406 |
CACNA1C | D-----------------IDPENEDEG--->-<------------------------------ | 455 |
CACNA1D | D-----------------IDPENEEEG--->-<------------------------------ | 456 |
CACNA1E | E-----------------VMLAEENKN--->-<------------------------------ | 401 |
CACNA1F | E-----------------LDMEDPSAD--->-<--------------------DNLG-SM--- | 428 |
CACNA1G | R-------------RLAQVSRA--AGVR-->-<--------------------VGLLSSPAP- | 470 |
CACNA1H | R-------------RSLRLYARW-QSRW-->-<--------------------RK-KVDPSA- | 494 |
CACNA1I | R-------------RALGLYQAL-QSRR-->-<--------------------QA-L-GPEAP | 472 |
CACNA1S | V-----------------MDVEDFREG--->-<------------------------------ | 384 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M463T | c.1388T>C | Putative Benign | SIFT: Polyphen: | ||
p.M463R | c.1388T>G | Putative Benign | SIFT: Polyphen: |