No paralogue variants have been mapped to residue 207 for SCN5A.
| SCN5A | LARGFCLHAFTFLRDPWNWLDFSVIIMAYV>S<ENIKLG-----------------NLSALRT | 220 |
| SCN1A | IARGFCLEDFTFLRDPWNWLDFTVITFAYV>T<EFVDLG-----------------NVSALRT | 217 |
| SCN2A | LARGFCLEDFTFLRDPWNWLDFTVITFAYV>T<EFVDLG-----------------NVSALRT | 218 |
| SCN3A | LARGFCLEDFTFLRDPWNWLDFSVIVMAYV>T<EFVDLG-----------------NVSALRT | 217 |
| SCN4A | LARGFCVDDFTFLRDPWNWLDFSVIMMAYL>T<EFVDLG-----------------NISALRT | 220 |
| SCN7A | FARGVWAGSFSFLGDPWNWLDFSVTVFEVI>I<RYSPLD-----------------FIPTLQT | 207 |
| SCN8A | IARGFCIDGFTFLRDPWNWLDFSVIMMAYI>T<EFVNLG-----------------NVSALRT | 221 |
| SCN9A | LARGFCVGEFTFLRDPWNWLDFVVIVFAYL>T<EFVNLG-----------------NVSALRT | 215 |
| SCN10A | LARGFCLNEFTYLRDPWNWLDFSVITLAYV>G<TAIDLR-----------------GISGLRT | 216 |
| SCN11A | LARGFILDEFSFLRDPWNWLDSIVIGIAIV>S<YIPGIT----------------IKLLPLRT | 223 |
| CACNA1A | IALGFAFHKGSYLRNGWNVMDFVVVLTGIL>A<TVGTEF-----------------DLRTLRA | 196 |
| CACNA1B | IALGFVFHKGSYLRNGWNVMDFVVVLTGIL>A<TAGTDF-----------------DLRTLRA | 193 |
| CACNA1C | IAYGLLFHPNAYLRNGWNLLDFIIVVVGLF>S<AILEQATKA-DGANALGGKGAGFDVKALRA | 238 |
| CACNA1D | IAYGLLLHPNAYVRNGWNLLDFVIVIVGLF>S<VILEQLTKETEGGNHSSGKSGGFDVKALRA | 241 |
| CACNA1E | VALGFIFHKGSYLRNGWNVMDFIVVLSGIL>A<TAGTHFN-------------THVDLRTLRA | 191 |
| CACNA1F | VAYGLVLHPSAYIRNGWNLLDFIIVVVGLF>S<VLLEQGPGRPGDAPHTGGKPGGFDVKALRA | 207 |
| CACNA1G | VALGI-FGKKCYLGDTWNRLDFFIVIAGML>E<YSLDLQ---------------NVSFSAVRT | 181 |
| CACNA1H | VALGL-FGQKCYLGDTWNRLDFFIVVAGMM>E<YSLDGH---------------NVSLSAIRT | 200 |
| CACNA1I | VALGI-FGKKCYLGDTWNRLDFFIVMAGMV>E<YSLDLQ---------------NINLSAIRT | 179 |
| CACNA1S | IAYGFLFHQDAYLRSGWNVLDFTIVFLGVF>T<VILEQVNVIQSHTAPMSSKGAGLDVKALRA | 166 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T207A | c.619A>G | Unknown | SIFT: Polyphen: | ||
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||