No paralogue variants have been mapped to residue 1963 for SCN5A.
SCN5A | --------------------NF-SRPLG-P>P<SS---------------------------- | 1965 |
SCN1A | --------------------NS-I-----T>E<KT---------------------------- | 1973 |
SCN2A | --------------------NS-T-----P>E<KT---------------------------- | 1963 |
SCN3A | --------------------NS-T-----P>E<KT---------------------------- | 1958 |
SCN4A | --------------------NSSS-----P>S<PE---------------------------- | 1793 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | --------------------GT-H-----R>E<KK---------------------------- | 1935 |
SCN9A | --------------------NS-S-----P>E<KT---------------------------- | 1935 |
SCN10A | --------------------NC-V---L-P>D<KS---------------------------- | 1909 |
SCN11A | --------------------PH-----S-P>L<QT---------------------------- | 1772 |
CACNA1A | EMFQKTGTWSPEQGPPTDMPNSQP-NSQSV>E<MREMGRDG-YSDSEHYLPMEGQGRAASMPR | 2096 |
CACNA1B | DAPHEA-RPPLERGHSTEIPVGRS-GALAV>D<VQMQSITRRGPDGEPQPGLESQGRAASMPR | 2005 |
CACNA1C | --------------------ASED-DIFRR>A<GGLFGNHV-SYYQSDG--------RSAFPQ | 1720 |
CACNA1D | --------------------EEED-DVFKR>N<GALLGNHV-NHVNSDR--------RDSLQQ | 1723 |
CACNA1E | DIFQLACMDPADDGQFQERQSLEP-EVSEL>K<SVQPSNHG-IYLPSDTQEHAGSGRASSMPR | 2003 |
CACNA1F | --------------------EDEK-DLETN>K<ATMVSQPS-AR---RG--------SGISVS | 1680 |
CACNA1G | RTHSLPNDSYMCRHGSTAEGPLGH-RGWGL>P<KA--------------Q----SGSVLSVHS | 2084 |
CACNA1H | EPGEKTPVRPVTQGGSLQSPPRSP-RPASV>R<T--------------RK----HTFGQRCVS | 2080 |
CACNA1I | WLKHDSSQAPPSPFSPDASSPLLP-MPAEF>F<HPAVSASQ-KGPEKGTG----TGTLPKIAL | 1990 |
CACNA1S | --------------------AMEE-GIFRR>T<GGLFGQVD-NFL--ER--------TNSLPP | 1620 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1963L | c.5888C>T | Putative Benign | SIFT: Polyphen: |