No paralogue variants have been mapped to residue 219 for CACNA1C.
CACNA1C | YLRNGWNLLDFIIVVVGLFSAILEQATKA->D<GANALGGKGAGFDVKALRAFRVLRPLRLVS | 249 |
CACNA1A | YLRNGWNVMDFVVVLTGILATVGTEF---->-<------------DLRTLRAVRVLRPLKLVS | 207 |
CACNA1B | YLRNGWNVMDFVVVLTGILATAGTDF---->-<------------DLRTLRAVRVLRPLKLVS | 204 |
CACNA1D | YVRNGWNLLDFVIVIVGLFSVILEQLTKET>E<GGNHSSGKSGGFDVKALRAFRVLRPLRLVS | 252 |
CACNA1E | YLRNGWNVMDFIVVLSGILATAGTHFN--->-<---------THVDLRTLRAVRVLRPLKLVS | 202 |
CACNA1F | YIRNGWNLLDFIIVVVGLFSVLLEQGPGRP>G<DAPHTGGKPGGFDVKALRAFRVLRPLRLVS | 218 |
CACNA1G | YLGDTWNRLDFFIVIAGMLEYSLDLQ---->-<----------NVSFSAVRTVRVLRPLRAIN | 192 |
CACNA1H | YLGDTWNRLDFFIVVAGMMEYSLDGH---->-<----------NVSLSAIRTVRVLRPLRAIN | 211 |
CACNA1I | YLGDTWNRLDFFIVMAGMVEYSLDLQ---->-<----------NINLSAIRTVRVLRPLKAIN | 190 |
CACNA1S | YLRSGWNVLDFTIVFLGVFTVILEQVNVIQ>S<HTAPMSSKGAGLDVKALRAFRVLRPLRLVS | 177 |
SCN10A | YLRDPWNWLDFSVITLAYVGTAIDLR---->-<------------GISGLRTFRVLRALKTVS | 227 |
SCN11A | FLRDPWNWLDSIVIGIAIVSYIPGIT---->-<-----------IKLLPLRTFRVFRALKAIS | 234 |
SCN1A | FLRDPWNWLDFTVITFAYVTEFVDLG---->-<------------NVSALRTFRVLRALKTIS | 228 |
SCN2A | FLRDPWNWLDFTVITFAYVTEFVDLG---->-<------------NVSALRTFRVLRALKTIS | 229 |
SCN3A | FLRDPWNWLDFSVIVMAYVTEFVDLG---->-<------------NVSALRTFRVLRALKTIS | 228 |
SCN4A | FLRDPWNWLDFSVIMMAYLTEFVDLG---->-<------------NISALRTFRVLRALKTIT | 231 |
SCN5A | FLRDPWNWLDFSVIIMAYVSENIKLG---->-<------------NLSALRTFRVLRALKTIS | 231 |
SCN7A | FLGDPWNWLDFSVTVFEVIIRYSPLD---->-<------------FIPTLQTARTLRILKIIP | 218 |
SCN8A | FLRDPWNWLDFSVIMMAYITEFVNLG---->-<------------NVSALRTFRVLRALKTIS | 232 |
SCN9A | FLRDPWNWLDFVVIVFAYLTEFVNLG---->-<------------NVSALRTFRVLRALKTIS | 226 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D219E | c.657T>A | Putative Benign | SIFT: Polyphen: |