No paralogue variants have been mapped to residue 766 for CACNA1C.
CACNA1C | LFICGNYILLNVFLAIAVDNLADAESLTSA>Q<KEEEEE-KERKK-LART---AS-------- | 783 |
CACNA1A | LTLFGNYTLLNVFLAIAVDNLANAQELTKD>E<QEEEEA-ANQKL-ALQKAKEVAEVSPLSAA | 755 |
CACNA1B | LTLFGNYTLLNVFLAIAVDNLANAQELTKD>E<EEMEEA-ANQKL-ALQKAKEVAEVSPMSAA | 751 |
CACNA1D | LFICGNYILLNVFLAIAVDNLADAESLNTA>Q<KEEAEE-KERKK-IARK---ES-------- | 802 |
CACNA1E | LTLFGNYTLLNVFLAIAVDNLANAQELTKD>E<QEEEEA-FNQKH-ALQKAKEVSPMSAPNMP | 744 |
CACNA1F | LFICGNYILLNVFLAIAVDNLASGDA-GTA>K<DKGGEK-SNEKDLPQEN---EG-------- | 788 |
CACNA1G | LMTFGNYVLFNLLVAILVEGFQ-AEEISKR>E<DASGQL-SCIQL-PVDSQGGDANKS----- | 999 |
CACNA1H | LMTFGNYVLFNLLVAILVEGFQ-AEGDANR>S<DTDEDKTSVHFEEDFHKL------------ | 1045 |
CACNA1I | LMTFGNYVLFNLLVAILVEGFQAEGDAN-R>S<YSDEDQSSSNIE-EFDKLQE---------- | 893 |
CACNA1S | LFVCGNYILLNVFLAIAVDNLAEAESLTSA>Q<KAKAEE-KKRRK-MSKGLPDKS-------- | 694 |
SCN10A | VMVLGNLVVLNLFIALLLNSFS-ADNLTAP>-<EDDGEV-NNLQV-ALARIQV---FGH---- | 922 |
SCN11A | ITVIGKLVVLNLFIALLLNSFS-NEERNGN>L<EGEARK-TKVQL-ALDRFRRAFCFVR---- | 847 |
SCN1A | VMVIGNLVVLNLFLALLLSSFS-ADNLAAT>-<DDDNEM-NNLQI-AVDRMHKGVAYVK---- | 1027 |
SCN2A | VMVIGNLVVLNLFLALLLSSFS-SDNLAAT>-<DDDNEM-NNLQI-AVGRMQKGIDFVK---- | 1018 |
SCN3A | VMVIGNLVVLNLFLALLLSSFS-SDNLAAT>-<DDDNEM-NNLQI-AVGRMQKGIDYVK---- | 1019 |
SCN4A | VMVIGNLVVLNLFLALLLSSFS-ADSLAAS>-<DEDGEM-NNLQI-AIGRIKLGIGFAK---- | 837 |
SCN5A | VMVIGNLVVLNLFLALLLSSFS-ADNLTAP>-<DEDREM-NNLQL-ALARIQRGLRFVK---- | 974 |
SCN7A | VILIGNLLVLYLFLA-LVSSFS-SCKDVTA>-<EENNEA-KNLQL-AVARIKKGINYVL---- | 763 |
SCN8A | VMVIGNLVVLNLFLALLLSSFS-ADNLAAT>-<DDDGEM-NNLQI-SVIRIKKGVAWTK---- | 1012 |
SCN9A | VMVIGNLVVLNLFLALLLSSFS-SDNLTAI>-<EEDPDA-NNLQI-AVTRIKKGINYVK---- | 992 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q766K | c.2296C>A | Putative Benign | SIFT: Polyphen: |