No paralogue variants have been mapped to residue 765 for CACNA1C.
CACNA1C | ILFICGNYILLNVFLAIAVDNLADAESLTS>A<QKEEEEE-KERKK-LART---AS------- | 783 |
CACNA1A | VLTLFGNYTLLNVFLAIAVDNLANAQELTK>D<EQEEEEA-ANQKL-ALQKAKEVAEVSPLSA | 754 |
CACNA1B | VLTLFGNYTLLNVFLAIAVDNLANAQELTK>D<EEEMEEA-ANQKL-ALQKAKEVAEVSPMSA | 750 |
CACNA1D | ILFICGNYILLNVFLAIAVDNLADAESLNT>A<QKEEAEE-KERKK-IARK---ES------- | 802 |
CACNA1E | VLTLFGNYTLLNVFLAIAVDNLANAQELTK>D<EQEEEEA-FNQKH-ALQKAKEVSPMSAPNM | 743 |
CACNA1F | ILFICGNYILLNVFLAIAVDNLASGDA-GT>A<KDKGGEK-SNEKDLPQEN---EG------- | 788 |
CACNA1G | ALMTFGNYVLFNLLVAILVEGFQ-AEEISK>R<EDASGQL-SCIQL-PVDSQGGDANKS---- | 999 |
CACNA1H | ALMTFGNYVLFNLLVAILVEGFQ-AEGDAN>R<SDTDEDKTSVHFEEDFHKL----------- | 1045 |
CACNA1I | ALMTFGNYVLFNLLVAILVEGFQAEGDAN->R<SYSDEDQSSSNIE-EFDKLQE--------- | 893 |
CACNA1S | ILFVCGNYILLNVFLAIAVDNLAEAESLTS>A<QKAKAEE-KKRRK-MSKGLPDKS------- | 694 |
SCN10A | TVMVLGNLVVLNLFIALLLNSFS-ADNLTA>P<-EDDGEV-NNLQV-ALARIQV---FGH--- | 922 |
SCN11A | LITVIGKLVVLNLFIALLLNSFS-NEERNG>N<LEGEARK-TKVQL-ALDRFRRAFCFVR--- | 847 |
SCN1A | MVMVIGNLVVLNLFLALLLSSFS-ADNLAA>T<-DDDNEM-NNLQI-AVDRMHKGVAYVK--- | 1027 |
SCN2A | MVMVIGNLVVLNLFLALLLSSFS-SDNLAA>T<-DDDNEM-NNLQI-AVGRMQKGIDFVK--- | 1018 |
SCN3A | LVMVIGNLVVLNLFLALLLSSFS-SDNLAA>T<-DDDNEM-NNLQI-AVGRMQKGIDYVK--- | 1019 |
SCN4A | MVMVIGNLVVLNLFLALLLSSFS-ADSLAA>S<-DEDGEM-NNLQI-AIGRIKLGIGFAK--- | 837 |
SCN5A | LVMVIGNLVVLNLFLALLLSSFS-ADNLTA>P<-DEDREM-NNLQL-ALARIQRGLRFVK--- | 974 |
SCN7A | MVILIGNLLVLYLFLA-LVSSFS-SCKDVT>A<-EENNEA-KNLQL-AVARIKKGINYVL--- | 763 |
SCN8A | MVMVIGNLVVLNLFLALLLSSFS-ADNLAA>T<-DDDGEM-NNLQI-SVIRIKKGVAWTK--- | 1012 |
SCN9A | MVMVIGNLVVLNLFLALLLSSFS-SDNLTA>I<-EEDPDA-NNLQI-AVTRIKKGINYVK--- | 992 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A765S | c.2293G>T | Putative Benign | SIFT: Polyphen: |