No paralogue variants have been mapped to residue 2 for SCN5A.
SCN5A | ----M>A<N-F-L-------------LPRGTSSFRRFT | 17 |
SCN1A | ---ME>Q<T-V-L-------------VPPGPDSFNFFT | 18 |
SCN2A | ---MA>Q<S-V-L-------------VPPGPDSFRFFT | 18 |
SCN3A | ---MA>Q<A-L-L-------------VPPGPESFRLFT | 18 |
SCN4A | MARPS>L<C-T-L-------------VPLGPECLRPFT | 21 |
SCN7A | ----->-<--M-L-------------ASPEPKGLVPFT | 14 |
SCN8A | ---MA>A<R-L-L-------------APPGPDSFKPFT | 18 |
SCN9A | ----->M<A-M-L-------------PPPGPQSFVHFT | 16 |
SCN10A | ----M>E<F-P-I-------------GSLETNNFRRFT | 17 |
SCN11A | -MDDR>C<Y-P-V-------------IFPDERNFRPFT | 20 |
CACNA1A | MARF->-<---GD----EM-PARYGG------------ | 14 |
CACNA1B | MVRF->-<---GD----EL-GGRYGG------------ | 14 |
CACNA1C | MVNEN>T<R--MYIPEENHQGSNYGS------------ | 22 |
CACNA1D | MMMM->-<---MMMKKMQHQRQQQAD--------H--A | 21 |
CACNA1E | MARF->-<---GE----AV-VARPGS------------ | 14 |
CACNA1F | MSES->-<---E----GG----KDTT------------ | 11 |
CACNA1G | MDEE->E<D--GA-------------GAEESGQP-R-S | 18 |
CACNA1H | MTEG->A<RAADE--V-RV-P--LGAPPPGPAALVGAS | 29 |
CACNA1I | MAE-->-<---SA-------------SPPSSSAAAPAA | 17 |
CACNA1S | MEP-->-<------------------------------ | 3 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2T | c.4G>A | Inherited Arrhythmia | BrS | rs199473042 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients. Rev Esp Cardiol. 2010 63(7):856-9. 20609320 |