No paralogue variants have been mapped to residue 2000 for CACNA1C.
| CACNA1C | PTLRLEGVESSEKLNSSFPSIHCGSWAETT>P<GGGGSSAARRVRPVSLMVPSQA---GAPGR | 2027 |
| CACNA1A | RDQRWS------------------------>-<------------------------------ | 2247 |
| CACNA1B | PSITYKTANS----S--PIHFA-------->-<-----------GAQTSLPAFSP---GRLSR | 2231 |
| CACNA1D | PLIQVEQSEALDQVNGSLPSLHRSSWYTDE>P<----DISYRTFTPASLTVPSSF---RNKNS | 2072 |
| CACNA1E | PLLSYSSLIR----H--AGSIS-------->-<-----------PPADGSEEGSP---LT-SQ | 2198 |
| CACNA1F | PLLLVEEGAAGEGYLGRS------------>-<----SGPLRTFT--CLHVPGTH---SDPSH | 1889 |
| CACNA1G | RDLKKCYSVEAQSCQRRPTSWLDEQRRHSI>A<VSCLDSGSQPHLGTDPSNLGG---QPLGGP | 2298 |
| CACNA1H | RDLRRLYSVDAQGFLDKPGR-ADEQWRPSA>E<LGSGEP-------GEAKAWGP---EAEPAL | 2179 |
| CACNA1I | PAARRRLSLRGRGLFSLRG--LRAHQRSHS>S<GGSTSPGCTHHDSMDPSDEEGRGGAGGGGA | 2119 |
| CACNA1S | ---RVESSMPEDRKSSTPGSLHE-----ET>P<----------------HSRSTR---ENTSR | 1778 |
| SCN10A | -S--SIQNED-------E------------>-<------------------------------ | 1945 |
| SCN11A | -G--KVHC---------------------->-<------------------------------ | 1790 |
| SCN1A | -E--GKDEKA-------------------->-<------------------------------ | 2006 |
| SCN2A | -D--KSEKED-------------------->-<------------------------------ | 1995 |
| SCN3A | -D--KPEKES-------------------->-<------------------------------ | 1990 |
| SCN4A | -A--PPPGQT-------------------->-<------------------------------ | 1826 |
| SCN5A | -D--YSHSED-------L------------>-<------------------------------ | 2001 |
| SCN7A | -S--P------------------------->-<------------------------------ | 1677 |
| SCN8A | -G--RRERAK-------------------->-<------------------------------ | 1970 |
| SCN9A | -D--RTEKED-------------------->-<------------------------------ | 1967 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P2000A | c.5998C>G | Putative Benign | SIFT: Polyphen: |