No paralogue variants have been mapped to residue 292 for SCN5A.
SCN5A | ----NFTALN---G-TN------------->G<S---------VEADGLVWESLDLYLSD-PE | 312 |
SCN1A | -EKNITVNYN---G-TL------------->I<N---------ETVFEF---DWKSYIQD-SR | 322 |
SCN2A | SFFNNSLDGN---G-TT------------->F<N---------RTVSIF---NWDEYIED-KS | 324 |
SCN3A | SYFNGTMDSN---G-TF------------->V<N---------VTMSTF---NWKDYIGD-DS | 323 |
SCN4A | WYSNDTWYGN---D-TWYGNEMWYGNDSWY>A<NDTWNSHASWATNDTF---DWDAYISD-EG | 346 |
SCN7A | ---------N---E-TLH------------>-<N---------RTG-------NPYYIRE-TE | 293 |
SCN8A | ------INFN---E-SY------------->L<E---------NGTKGF---DWEEYINN-KT | 310 |
SCN9A | ------LENN---E-TL------------->E<S---------IMNTLE---SEEDF----RK | 301 |
SCN10A | -----DMAVN---E-TTN------------>-<--------------Y------S-SHRK-PD | 296 |
SCN11A | -----DCK-N---I-SN------------->-<--------------------PE---AY-DH | 299 |
CACNA1A | --DI-----Q---G---------------->-<------------------------------ | 266 |
CACNA1B | --A------E---P---------------->-<------------------------------ | 262 |
CACNA1C | ---V----PA---E---------------->-<------------------------------ | 310 |
CACNA1D | ---I----VA---E---------------->-<------------------------------ | 311 |
CACNA1E | --IL----EG---F---------------->-<------------------------------ | 262 |
CACNA1F | ---M----EA---E---------------->-<------------------------------ | 277 |
CACNA1G | -RYYQT-ENE---DESPFICSQPRENG--->-<---MRSCRSVPTLRGD---GGGGPPCG-LD | 301 |
CACNA1H | -PYYQT-EEG---EENPFICSSRRDNG--->-<---MQKCSHIPGRRE------LRMPCT-LG | 318 |
CACNA1I | -PYYQP-EED---DEMPFICSLSGDNG--->-<---IMGCHEIPPLKE------QGRECCLSK | 297 |
CACNA1S | ---I----VATVEN---------------->-<------------------------------ | 239 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G292S | c.874G>A | Inherited Arrhythmia | BrS | rs199473085 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | Genetic analysis of Brugada syndrome in Western Japan: two novel mutations. Circ J. 2004 68(8):740-6. 15277732 |