No paralogue variants have been mapped to residue 486 for SCN5A.
SCN5A | LEMSPLAPVNSHERRSKRRKR----MS-SG>T<E-ECGEDRLPKSDSEDGPRAM--N------ | 507 |
SCN1A | SEASKLSSKSAKERRNRRKKRKQKEQS-GG>E<E-KDE-DEFQKSESEDSIRRK--GFRFSIE | 539 |
SCN2A | SVASKLSSKSEKELKNRRKKKKQKEQS-GE>E<E-KND--RVRKSESEDSIRRK--GFRFSLE | 542 |
SCN3A | SEASKLSSKSAKEWRNRRKKRRQREHL-EG>N<N-KGERDSFPKSESEDSVKRS--SFLFSMD | 542 |
SCN4A | --------------------------E-GG>E<A-DGD------------------------- | 499 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | SEISKLSSKSAKERRNRRKKRKQKELS-EG>E<E-KGDPEKVFKSESEDGMRRK--AFRLP-D | 533 |
SCN9A | SETSKLSSKSAKERRNRRKKKNQKKLS-SG>E<E-KGDAEKLSKSESEDSIRRK--SFHLGVE | 519 |
SCN10A | HNGSPLTSKNASERRHRIKPRV----S-EG>S<T-ED--NKSPRSDPYN-Q------------ | 484 |
SCN11A | LETSYFTPKKRKLFGNKKRKS----FF-LR>E<S-GKD--QPPGSDSDE-------------- | 486 |
CACNA1A | ------------------------------>-<----GEQRH--------------------- | 415 |
CACNA1B | ------------------------------>-<----AEEKS--------------------- | 411 |
CACNA1C | ------------------------------>-<----MD------------------------ | 457 |
CACNA1D | ------------------------------>-<----GE------------------------ | 458 |
CACNA1E | ------------------------------>-<----AGTSA--------------------- | 406 |
CACNA1F | -----------------------DNLG-SM>-<----AE------------------------ | 430 |
CACNA1G | -----------------------VGLLSSP>A<P-LGGQETQPSSSCSRSHRRL--SV-HHLV | 495 |
CACNA1H | -----------------------RK-KVDP>S<A-VQGQGPGHRQRRAG---RHTASVHHLVY | 519 |
CACNA1I | -----------------------QA-L-GP>E<APAPAK-PGPHAKEPR---HYHGKTKGQGD | 496 |
CACNA1S | ------------------------------>-<----KL------------------------ | 386 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T486A | c.1456A>G | Putative Benign | SIFT: Polyphen: |