No paralogue variants have been mapped to residue 730 for CACNA1C.
CACNA1C | FQILTGEDWNSVMYDGIMAYGGPSFPGMLV>C<IYFIILFICGNYILLNVFLAIAVDNLADAE | 760 |
CACNA1A | FQILTGEDWNEVMYDGIKSQGGV-QGGMVF>S<IYFIVLTLFGNYTLLNVFLAIAVDNLANAQ | 721 |
CACNA1B | FQILTGEDWNAVMYHGIESQGGV-SKGMFS>S<FYFIVLTLFGNYTLLNVFLAIAVDNLANAQ | 717 |
CACNA1D | FQILTGEDWNAVMYDGIMAYGGPSSSGMIV>C<IYFIILFICGNYILLNVFLAIAVDNLADAE | 779 |
CACNA1E | FQILTGEDWNEVMYNGIRSQGGV-SSGMWS>A<IYFIVLTLFGNYTLLNVFLAIAVDNLANAQ | 710 |
CACNA1F | FQILTGEDWNVVMYDGIMAYGGPFFPGMLV>C<IYFIILFICGNYILLNVFLAIAVDNLASGD | 765 |
CACNA1G | FQILTQEDWNKVLYNGMAS-T-S----SWA>A<LYFIALMTFGNYVLFNLLVAILVEGFQ-AE | 970 |
CACNA1H | FQILTQEDWNVVLYNGMAS-T-S----SWA>A<LYFVALMTFGNYVLFNLLVAILVEGFQ-AE | 1021 |
CACNA1I | FQILTQEDWNVVLYNGMAS-T-S----PWA>S<LYFVALMTFGNYVLFNLLVAILVEGFQAEG | 869 |
CACNA1S | FQVLTGEDWTSMMYNGIMAYGGPSYPGMLV>C<IYFIILFVCGNYILLNVFLAIAVDNLAEAE | 668 |
SCN10A | FRILCGE-WIENMWACMEV-----GQKSIC>L<ILFLTVMVLGNLVVLNLFIALLLNSFS-AD | 896 |
SCN11A | FRILCGE-WIENMWECMQEAN---ASSSLC>V<IVFILITVIGKLVVLNLFIALLLNSFS-NE | 817 |
SCN1A | FRVLCGE-WIETMWDCMEV-----AGQAMC>L<TVFMMVMVIGNLVVLNLFLALLLSSFS-AD | 998 |
SCN2A | FRVLCGE-WIETMWDCMEV-----AGQTMC>L<TVFMMVMVIGNLVVLNLFLALLLSSFS-SD | 989 |
SCN3A | FRVLCGE-WIETMWDCMEV-----AGQTMC>L<IVFMLVMVIGNLVVLNLFLALLLSSFS-SD | 990 |
SCN4A | FRILCGE-WIETMWDCMEV-----AGQAMC>L<TVFLMVMVIGNLVVLNLFLALLLSSFS-AD | 808 |
SCN5A | FRILCGE-WIETMWDCMEV-----SGQSLC>L<LVFLLVMVIGNLVVLNLFLALLLSSFS-AD | 945 |
SCN7A | FRILCGE-WVETLWDCMEV-----AGQSWC>I<PFYLMVILIGNLLVLYLFLA-LVSSFS-SC | 734 |
SCN8A | FRVLCGE-WIETMWDCMEV-----AGQAMC>L<IVFMMVMVIGNLVVLNLFLALLLSSFS-AD | 983 |
SCN9A | FRVLCGE-WIETMWDCMEV-----AGQAMC>L<IVYMMVMVIGNLVVLNLFLALLLSSFS-SD | 963 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C730S | c.2188T>A | Putative Benign | SIFT: Polyphen: |