Paralogue Annotation for CACNA1C residue 774

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 774
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 774

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	N1011I	Myoclonic epilepsy of infancy	Medium	4	12566275, 16210358

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.

CACNA1C	LNVFLAIAVDNLADAESLTSAQKEEEEE-K>E<RKK-LART---AS-----------------	783
CACNA1A	LNVFLAIAVDNLANAQELTKDEQEEEEA-A>N<QKL-ALQKAKEVAEVSPLSAANMS------	758
CACNA1B	LNVFLAIAVDNLANAQELTKDEEEMEEA-A>N<QKL-ALQKAKEVAEVSPMSAANIS------	754
CACNA1D	LNVFLAIAVDNLADAESLNTAQKEEAEE-K>E<RKK-IARK---ES-----------------	802
CACNA1E	LNVFLAIAVDNLANAQELTKDEQEEEEA-F>N<QKH-ALQKAKEVSPMSAPNMPSIERDRRRR	753
CACNA1F	LNVFLAIAVDNLASGDA-GTAKDKGGEK-S>N<EKDLPQEN---EG-----------------	788
CACNA1G	FNLLVAILVEGFQ-AEEISKREDASGQL-S>C<IQL-PVDSQGGDANKS------------ES	1001
CACNA1H	FNLLVAILVEGFQ-AEGDANRSDTDEDKTS>V<HFEEDFHKL---------------------	1045
CACNA1I	FNLLVAILVEGFQAEGDAN-RSYSDEDQSS>S<NIE-EFDKLQE-------------------	893
CACNA1S	LNVFLAIAVDNLAEAESLTSAQKAKAEE-K>K<RRK-MSKGLPDKS-----------------	694
SCN10A	LNLFIALLLNSFS-ADNLTAP-EDDGEV-N>N<LQV-ALARIQV---FGH-------------	922
SCN11A	LNLFIALLLNSFS-NEERNGNLEGEARK-T>K<VQL-ALDRFRRAFCFVR-------------	847
SCN1A	LNLFLALLLSSFS-ADNLAAT-DDDNEM-N>N<LQI-AVDRMHKGVAYVK-------------	1027
SCN2A	LNLFLALLLSSFS-SDNLAAT-DDDNEM-N>N<LQI-AVGRMQKGIDFVK-------------	1018
SCN3A	LNLFLALLLSSFS-SDNLAAT-DDDNEM-N>N<LQI-AVGRMQKGIDYVK-------------	1019
SCN4A	LNLFLALLLSSFS-ADSLAAS-DEDGEM-N>N<LQI-AIGRIKLGIGFAK-------------	837
SCN5A	LNLFLALLLSSFS-ADNLTAP-DEDREM-N>N<LQL-ALARIQRGLRFVK-------------	974
SCN7A	LYLFLA-LVSSFS-SCKDVTA-EENNEA-K>N<LQL-AVARIKKGINYVL-------------	763
SCN8A	LNLFLALLLSSFS-ADNLAAT-DDDGEM-N>N<LQI-SVIRIKKGVAWTK-------------	1012
SCN9A	LNLFLALLLSSFS-SDNLTAI-EEDPDA-N>N<LQI-AVTRIKKGINYVK-------------	992
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 774 for CACNA1C.