No paralogue variants have been mapped to residue 2002 for SCN5A.
| SCN5A | ------------------------------>A<------------------------------ | 2002 |
| SCN1A | ------------------------------>-<------------------------------ | |
| SCN2A | ------------------------------>-<------------------------------ | |
| SCN3A | ------------------------------>-<------------------------------ | |
| SCN4A | ------------------------------>-<------------------------------ | |
| SCN7A | ------------------------------>-<------------------------------ | |
| SCN8A | ------------------------------>-<------------------------------ | |
| SCN9A | ------------------------------>-<------------------------------ | |
| SCN10A | ------------------------------>A<------------------------------ | 1946 |
| SCN11A | ------------------------------>-<------------------------------ | |
| CACNA1A | ------------------------------>-<------------------------------ | |
| CACNA1B | ----GAQTSLPAFSP---GRLSRGLSEHNA>-<----LLQRDPL--SQPL----APGSRIG-- | 2256 |
| CACNA1C | ARRVRPVSLMVPSQA---GAPGRQFHGSAS>S<LVEA-----VL--ISEG----LGQFAQD-- | 2052 |
| CACNA1D | YRTFTPASLTVPSSF---RNKNSDKQRSAD>S<LVEA-----VL--ISEG----LGRYARD-- | 2097 |
| CACNA1E | ----PPADGSEEGSP---LT-SQALESNNA>C<LTESSNSPHPQ--QSQH----ASPQRYI-- | 2228 |
| CACNA1F | LRTFT--CLHVPGTH---SDPSHGKRGSAD>S<LVEA-----VL--ISEG----LGLFARD-- | 1914 |
| CACNA1G | SQPHLGTDPSNLGG---QPLGGPGSRPKKK>L<SPPS-----IT--IDPP----ESQGPRT-- | 2323 |
| CACNA1H | ------GEAKAWGP---EAEPALGARRKKK>M<SPPC-----I--SVEPPAEDEGSARPSAAE | 2210 |
| CACNA1I | CTHHDSMDPSDEEGRGGAGGGGAGSEHSET>L<SSLS-----LTSLFCPP----PP------- | 2141 |
| CACNA1S | ---------HSRSTR---ENTSRCSAPATA>L<LIQK-----AL--VRGG----LGTLAAD-- | 1803 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A2002S | c.6004G>T | Putative Benign | SIFT: Polyphen: | ||
| p.Ala2002Thr | c.6004G>A | Unknown | SIFT: Polyphen: |