No paralogue variants have been mapped to residue 784 for CACNA1C.
CACNA1C | ------------------------------>P<------------------------------ | 784 |
CACNA1A | PLSAANMS--------------IAVKEQQK>N<QKPAKSVWEQRTSEM--RKQNLLASREA-L | 794 |
CACNA1B | PMSAANIS--------------IAA--RQQ>N<SAKARSVWEQRASQL--RLQNLRASCEA-L | 788 |
CACNA1D | ------------------------------>L<------------------------------ | 803 |
CACNA1E | APNMPSIERDRRRRHHMSMWEPRSSHLRER>R<RRHHMSVWEQRTSQL--RKHMQMSSQEA-L | 797 |
CACNA1F | ------------------------------>L<------------------------------ | 789 |
CACNA1G | ------------ESE--------------->P<DFFSPSLDGDGDRKKCLALVSLGEHPEL-R | 1032 |
CACNA1H | ------------------------------>-<-----RELQTTELKMCSLAVTPNGHLEG-R | 1069 |
CACNA1I | ------------------------------>-<-----GLDSSGDPKLCPIPMTPNGHLDP-S | 917 |
CACNA1S | ------------------------------>E<------------------------------ | 695 |
SCN10A | H----------------------------->-<-RTKQALCSFFS-----------RSCPFPQ | 940 |
SCN11A | R----------------------------->-<----HTLEHFCH-----------KWCRK-Q | 861 |
SCN1A | K----------------------------->-<----RKIYEFIQ-----------QSFIR-K | 1041 |
SCN2A | K----------------------------->-<----RKIREFIQ-----------KAFVR-K | 1032 |
SCN3A | K----------------------------->-<----NKMRECFQ-----------KAFFR-K | 1033 |
SCN4A | K----------------------------->-<----AFLLGLLH-----------GKILS-P | 851 |
SCN5A | K----------------------------->-<----RTTWDFCC-----------GLLRQ-R | 988 |
SCN7A | L----------------------------->-<----LKILCKTQ-----------NVP---- | 774 |
SCN8A | K----------------------------->-<----LKVHAFMQ-----------AHFKQ-R | 1026 |
SCN9A | K----------------------------->-<----QTLREFIL-----------KAFSK-K | 1006 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P784S | c.2350C>T | Putative Benign | SIFT: Polyphen: |