No paralogue variants have been mapped to residue 2000 for SCN5A.
| SCN5A | ------------------S---D--YSHSE>D<-------L---------------------- | 2001 |
| SCN1A | ------------------Q---E--GKDEK>A<------------------------------ | 2006 |
| SCN2A | ------------------K---D--KSEKE>D<------------------------------ | 1995 |
| SCN3A | ------------------K---D--KPEKE>S<------------------------------ | 1990 |
| SCN4A | ------------------P---A--PPPGQ>T<------------------------------ | 1826 |
| SCN7A | ----------------------S--P---->-<------------------------------ | 1677 |
| SCN8A | ------------------E---G--RRERA>K<------------------------------ | 1970 |
| SCN9A | ------------------Q---D--RTEKE>D<------------------------------ | 1967 |
| SCN10A | ------------------S---S--SIQNE>D<-------E---------------------- | 1945 |
| SCN11A | ----------------------G--KVHC->-<------------------------------ | 1790 |
| CACNA1A | RYAQ-ERPDHG------RARARDQRWS--->-<------------------------------ | 2247 |
| CACNA1B | RGGRRQLPQTP------LTPRPSITYKTAN>S<----S--PIHFA------------------ | 2215 |
| CACNA1C | PRPFATPPATPGSRGWPPQPVPTLRLEGVE>S<SEKLNSSFPSIHCGSWAETTPGGGGSSAAR | 2009 |
| CACNA1D | TRSWATPPATPPYRDWTPCYTPLIQVEQSE>A<LDQVNGSLPSLHRSSWYTDEP----DISYR | 2054 |
| CACNA1E | RRSRRQLPPVP------PKPRPLLSYSSLI>R<----H--AGSIS------------------ | 2183 |
| CACNA1F | QGSWATPPQRG-----RLLYAPLLLVEEGA>A<GEGYLGRS-----------------SGPLR | 1873 |
| CACNA1G | --SWISGDLLPPGGQEEPPSPRDLKKCYSV>E<AQSCQRRPTSWLDEQRRHSIAVSCLDSGSQ | 2280 |
| CACNA1H | ---------------------RDLRRLYSV>D<AQGFLDKPGR-ADEQWRPSAELGSGEP--- | 2165 |
| CACNA1I | ---------------------PAARRRLSL>R<GRGLFSLRG--LRAHQRSHSSGGSTSPGCT | 2098 |
| CACNA1S | P-----------------------RVESSM>P<EDRKSSTPGSLHE-----ETP--------- | 1767 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D2000Y | c.5998G>T | Putative Benign | SIFT: Polyphen: |