No paralogue variants have been mapped to residue 514 for SCN5A.
SCN5A | AM--N-------------------HLSLTR>G<LSRTSMKPRSSRG--SIF------T--FRR | 534 |
SCN1A | RK--GFRFSIEGNRLTYEKRYSSPHQSLLS>I<RGSLFSPRRNSRT--SLF------S--FRG | 579 |
SCN2A | RK--GFRFSLEGSRLTYEKRFSSPHQSLLS>I<RGSLFSPRRNSRA--SLF------S--FRG | 582 |
SCN3A | RS--SFLFSMDGNRLTSDKKFCSPHQSLLS>I<RGSLFSPRRNSKT--SIF------S--FRG | 582 |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | RK--AFRLP-D-NRIG--RKFSIMNQSLLS>I<PGSPFLSRHNSKS--SIF------S--FRG | 570 |
SCN9A | RK--SFHLGVEGHRRAHEKRLSTPNQSPLS>I<RGSLFSARRSSRT--SLF------S--FKG | 559 |
SCN10A | --------------------------RRMS>F<LGLASGKRRASHG--SVF------H--FRS | 509 |
SCN11A | ------------------------------>-<------------------------------ | |
CACNA1A | ------------------------------>-<----------PFDG-ALR------R--TTI | 426 |
CACNA1B | ------------------------------>-<----------PLDA-VLK------R--AAT | 422 |
CACNA1C | ------------------------------>-<-------------EEKPR------N--MSM | 466 |
CACNA1D | ------------------------------>-<-------------E-GKR------N--TSM | 466 |
CACNA1E | ------------------------------>-<----------L--E-VLR------R--ATI | 415 |
CACNA1F | ------------------------------>-<-------------E-G-RAGHRPQL--AEL | 443 |
CACNA1G | RL--SV-HHLVH------HHHHHHHHYHL->G<NGTLRAPRASPEIQ-DRD------ANGSRR | 531 |
CACNA1H | RHTASVHHLVYH------HHHHHHHHYHF->S<HGSPRRPGPEPGAC-DTR------LVR--- | 552 |
CACNA1I | HYHGKTKGQGDE------GRHLGSRHCQT->L<HGP--------------------------- | 512 |
CACNA1S | ------------------------------>-<------------------------S--LDE | 390 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G514C | c.1540G>T | Inherited Arrhythmia | BrS | rs137854606 | SIFT: deleterious Polyphen: probably damaging |
Reports | Other Cardiac Phenotype | A sodium-channel mutation causes isolated cardiac conduction disease. Nature. 2001 409(6823):1043-7. 11234013 | |||
Inherited Arrhythmia | BrS | Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209 |