No paralogue variants have been mapped to residue 467 for SCN5A.
SCN5A | ---------------------RSSLEMSPL>A<PVNSHERRSKRRKR----MS-SGTE-ECGE | 491 |
SCN1A | ----EHSREPSAAGRL----SDSSSEASKL>S<SKSAKERRNRRKKRKQKEQS-GGEE-KDE- | 517 |
SCN2A | -----ESRDFSGAGGIGVF-SESSSVASKL>S<SKSEKELKNRRKKKKQKEQS-GEEE-KND- | 521 |
SCN3A | ------SRDFSGIGGLGEL-LESSSEASKL>S<SKSAKEWRNRRKKRRQREHL-EGNN-KGER | 520 |
SCN4A | ------------------------------>-<-------------------E-GGEA-DGD- | 499 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | GTVSEDAIEEEGEEGG-GS-PRSSSEISKL>S<SKSAKERRNRRKKRKQKELS-EGEE-KGDP | 512 |
SCN9A | ----YTSIRRSRIMGL----SESSSETSKL>S<SKSAKERRNRRKKKNQKKLS-SGEE-KGDA | 497 |
SCN10A | ---------------------LHSHNGSPL>T<SKNASERRHRIKPRV----S-EGST-ED-- | 473 |
SCN11A | ---------------------LTSLETSYF>T<PKKRKLFGNKKRKS----FF-LRES-GKD- | 477 |
CACNA1A | --------------VILAEDETD------->-<----------------------------GE | 412 |
CACNA1B | --------------VMLAEEDRN------->-<----------------------------AE | 408 |
CACNA1C | --------------IDPENEDEG------->-<----------------------------MD | 457 |
CACNA1D | --------------IDPENEEEG------->-<----------------------------GE | 458 |
CACNA1E | --------------VMLAEENKN------->-<----------------------------AG | 403 |
CACNA1F | --------------LDMEDPSAD------->-<----------------DNLG-SM-----AE | 430 |
CACNA1G | ----------RLAQVSRA--AGVR------>-<----------------VGLLSSPAP-LGGQ | 474 |
CACNA1H | ----------RSLRLYARW-QSRW------>-<----------------RK-KVDPSA-VQGQ | 498 |
CACNA1I | ----------RALGLYQAL-QSRR------>-<----------------QA-L-GPEAPAPAK | 476 |
CACNA1S | --------------MDVEDFREG------->-<----------------------------KL | 386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala467Ser | c.1399G>T | Unknown | SIFT: Polyphen: |