No paralogue variants have been mapped to residue 520 for SCN5A.
SCN5A | ------------------HLSLTRGLSRTS>M<KPRSSRG--SIF------T--FRR-----R | 535 |
SCN1A | RFSIEGNRLTYEKRYSSPHQSLLSIRGSLF>S<PRRNSRT--SLF------S--FRG---RAK | 582 |
SCN2A | RFSLEGSRLTYEKRFSSPHQSLLSIRGSLF>S<PRRNSRA--SLF------S--FRG---RAK | 585 |
SCN3A | LFSMDGNRLTSDKKFCSPHQSLLSIRGSLF>S<PRRNSKT--SIF------S--FRG---RAK | 585 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | RLP-D-NRIG--RKFSIMNQSLLSIPGSPF>L<SRHNSKS--SIF------S--FRGPG-RFR | 575 |
SCN9A | HLGVEGHRRAHEKRLSTPNQSPLSIRGSLF>S<ARRSSRT--SLF------S--FKG---RGR | 562 |
SCN10A | --------------------RRMSFLGLAS>G<KRRASHG--SVF------H--FRS---PGR | 512 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<----PFDG-ALR------R--TTI---K-K | 428 |
CACNA1B | ------------------------------>-<----PLDA-VLK------R--AAT---K-K | 424 |
CACNA1C | ------------------------------>-<-------EEKPR------N--MSM---P-- | 467 |
CACNA1D | ------------------------------>-<-------E-GKR------N--TSM---P-- | 467 |
CACNA1E | ------------------------------>-<----L--E-VLR------R--ATI---K-R | 417 |
CACNA1F | ------------------------------>-<-------E-G-RAGHRPQL--AEL---T-N | 445 |
CACNA1G | -HHLVH------HHHHHHHHYHL-GNGTLR>A<PRASPEIQ-DRD------ANGSRRLMLP-P | 536 |
CACNA1H | HHLVYH------HHHHHHHHYHF-SHGSPR>R<PGPEPGAC-DTR------LVR-----AG-A | 555 |
CACNA1I | KGQGDE------GRHLGSRHCQT-LHGP-->-<------------------------------ | 512 |
CACNA1S | ------------------------------>-<------------------S--LDE---G-- | 391 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M520V | c.1558A>G | Putative Benign | SIFT: Polyphen: |