No paralogue variants have been mapped to residue 1997 for SCN5A.
| SCN5A | ---------------------S---D--YS>H<SED-------L------------------- | 2001 |
| SCN1A | ---------------------Q---E--GK>D<EKA--------------------------- | 2006 |
| SCN2A | ---------------------K---D--KS>E<KED--------------------------- | 1995 |
| SCN3A | ---------------------K---D--KP>E<KES--------------------------- | 1990 |
| SCN4A | ---------------------P---A--PP>P<GQT--------------------------- | 1826 |
| SCN7A | -------------------------S--P->-<------------------------------ | 1677 |
| SCN8A | ---------------------E---G--RR>E<RAK--------------------------- | 1970 |
| SCN9A | ---------------------Q---D--RT>E<KED--------------------------- | 1967 |
| SCN10A | ---------------------S---S--SI>Q<NED-------E------------------- | 1945 |
| SCN11A | -------------------------G--KV>H<C----------------------------- | 1790 |
| CACNA1A | DKDRYAQ-ERPDHG------RARARDQRWS>-<------------------------------ | 2247 |
| CACNA1B | TPGRGGRRQLPQTP------LTPRPSITYK>T<ANS----S--PIHFA--------------- | 2215 |
| CACNA1C | ASFPRPFATPPATPGSRGWPPQPVPTLRLE>G<VESSEKLNSSFPSIHCGSWAETTPGGGGSS | 2006 |
| CACNA1D | SHSTRSWATPPATPPYRDWTPCYTPLIQVE>Q<SEALDQVNGSLPSLHRSSWYTDEP----DI | 2051 |
| CACNA1E | TP-RRSRRQLPPVP------PKPRPLLSYS>S<LIR----H--AGSIS--------------- | 2183 |
| CACNA1F | NRAQGSWATPPQRG-----RLLYAPLLLVE>E<GAAGEGYLGRS-----------------SG | 1870 |
| CACNA1G | -----SWISGDLLPPGGQEEPPSPRDLKKC>Y<SVEAQSCQRRPTSWLDEQRRHSIAVSCLDS | 2277 |
| CACNA1H | ------------------------RDLRRL>Y<SVDAQGFLDKPGR-ADEQWRPSAELGSGEP | 2165 |
| CACNA1I | ------------------------PAARRR>L<SLRGRGLFSLRG--LRAHQRSHSSGGSTSP | 2095 |
| CACNA1S | CQCP-----------------------RVE>S<SMPEDRKSSTPGSLHE-----ETP------ | 1767 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.H1997R | c.5990A>G | Putative Benign | SIFT: Polyphen: |