No paralogue variants have been mapped to residue 1957 for SCN5A.
| SCN5A | ---------------------------NF->S<RPLG-PPSS--------------------- | 1965 |
| SCN1A | ---------------------------NS->I<-----TEKT--------------------- | 1973 |
| SCN2A | ---------------------------NS->T<-----PEKT--------------------- | 1963 |
| SCN3A | ---------------------------NS->T<-----PEKT--------------------- | 1958 |
| SCN4A | ---------------------------NSS>S<-----PSPE--------------------- | 1793 |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ---------------------------GT->H<-----REKK--------------------- | 1935 |
| SCN9A | ---------------------------NS->S<-----PEKT--------------------- | 1935 |
| SCN10A | ---------------------------NC->V<---L-PDKS--------------------- | 1909 |
| SCN11A | ---------------------------PH->-<---S-PLQT--------------------- | 1772 |
| CACNA1A | WVTQRAQEMFQKTGTWSPEQGPPTDMPNSQ>P<-NSQSVEMREMGRDG-YSDSEHYLPMEGQG | 2089 |
| CACNA1B | WGTQRTQDAPHEA-RPPLERGHSTEIPVGR>S<-GALAVDVQMQSITRRGPDGEPQPGLESQG | 1998 |
| CACNA1C | ---------------------------ASE>D<-DIFRRAGGLFGNHV-SYYQSDG------- | 1714 |
| CACNA1D | ---------------------------EEE>D<-DVFKRNGALLGNHV-NHVNSDR------- | 1717 |
| CACNA1E | MSPLSPQDIFQLACMDPADDGQFQERQSLE>P<-EVSELKSVQPSNHG-IYLPSDTQEHAGSG | 1996 |
| CACNA1F | ---------------------------EDE>K<-DLETNKATMVSQPS-AR---RG------- | 1674 |
| CACNA1G | VRKSGVSRTHSLPNDSYMCRHGSTAEGPLG>H<-RGWGLPKA--------------Q----SG | 2077 |
| CACNA1H | RDTLDPAEPGEKTPVRPVTQGGSLQSPPRS>P<-RPASVRT--------------RK----HT | 2073 |
| CACNA1I | PFNPVRSWLKHDSSQAPPSPFSPDASSPLL>P<-MPAEFFHPAVSASQ-KGPEKGTG----TG | 1983 |
| CACNA1S | ---------------------------AME>E<-GIFRRTGGLFGQVD-NFL--ER------- | 1614 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S1957P | c.5869T>C | Putative Benign | SIFT: Polyphen: |