No paralogue variants have been mapped to residue 770 for CACNA1C.
CACNA1C | GNYILLNVFLAIAVDNLADAESLTSAQKEE>E<EE-KERKK-LART---AS------------ | 783 |
CACNA1A | GNYTLLNVFLAIAVDNLANAQELTKDEQEE>E<EA-ANQKL-ALQKAKEVAEVSPLSAANMS- | 758 |
CACNA1B | GNYTLLNVFLAIAVDNLANAQELTKDEEEM>E<EA-ANQKL-ALQKAKEVAEVSPMSAANIS- | 754 |
CACNA1D | GNYILLNVFLAIAVDNLADAESLNTAQKEE>A<EE-KERKK-IARK---ES------------ | 802 |
CACNA1E | GNYTLLNVFLAIAVDNLANAQELTKDEQEE>E<EA-FNQKH-ALQKAKEVSPMSAPNMPSIER | 748 |
CACNA1F | GNYILLNVFLAIAVDNLASGDA-GTAKDKG>G<EK-SNEKDLPQEN---EG------------ | 788 |
CACNA1G | GNYVLFNLLVAILVEGFQ-AEEISKREDAS>G<QL-SCIQL-PVDSQGGDANKS--------- | 999 |
CACNA1H | GNYVLFNLLVAILVEGFQ-AEGDANRSDTD>E<DKTSVHFEEDFHKL---------------- | 1045 |
CACNA1I | GNYVLFNLLVAILVEGFQAEGDAN-RSYSD>E<DQSSSNIE-EFDKLQE-------------- | 893 |
CACNA1S | GNYILLNVFLAIAVDNLAEAESLTSAQKAK>A<EE-KKRRK-MSKGLPDKS------------ | 694 |
SCN10A | GNLVVLNLFIALLLNSFS-ADNLTAP-EDD>G<EV-NNLQV-ALARIQV---FGH-------- | 922 |
SCN11A | GKLVVLNLFIALLLNSFS-NEERNGNLEGE>A<RK-TKVQL-ALDRFRRAFCFVR-------- | 847 |
SCN1A | GNLVVLNLFLALLLSSFS-ADNLAAT-DDD>N<EM-NNLQI-AVDRMHKGVAYVK-------- | 1027 |
SCN2A | GNLVVLNLFLALLLSSFS-SDNLAAT-DDD>N<EM-NNLQI-AVGRMQKGIDFVK-------- | 1018 |
SCN3A | GNLVVLNLFLALLLSSFS-SDNLAAT-DDD>N<EM-NNLQI-AVGRMQKGIDYVK-------- | 1019 |
SCN4A | GNLVVLNLFLALLLSSFS-ADSLAAS-DED>G<EM-NNLQI-AIGRIKLGIGFAK-------- | 837 |
SCN5A | GNLVVLNLFLALLLSSFS-ADNLTAP-DED>R<EM-NNLQL-ALARIQRGLRFVK-------- | 974 |
SCN7A | GNLLVLYLFLA-LVSSFS-SCKDVTA-EEN>N<EA-KNLQL-AVARIKKGINYVL-------- | 763 |
SCN8A | GNLVVLNLFLALLLSSFS-ADNLAAT-DDD>G<EM-NNLQI-SVIRIKKGVAWTK-------- | 1012 |
SCN9A | GNLVVLNLFLALLLSSFS-SDNLTAI-EED>P<DA-NNLQI-AVTRIKKGINYVK-------- | 992 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E770K | c.2308G>A | Putative Benign | SIFT: Polyphen: |