Paralogue Annotation for CACNA1C residue 74

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 74
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 74

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	E78D	Myoclonic epilepsy of infancy	Low	3	12821740

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	PTPGAALSWQAAIDAARQAKLMGSAGNATI>S<TVSST-QRKRQQYG-KPKKQGSTTATRPPR	102
CACNA1A	SRQGGQ--------PGA-----------QR>M<YKQSMAQRARTMAL-YNPIPVRQNCLTVNR	76
CACNA1B	PGPGGLQ-------PGQ-----------RV>L<YKQSIAQRARTMAL-YNPIPVKQNCFTVNR	73
CACNA1D	SSKQTVLSWQAAIDAARQAKAAQTMSTSAP>P<PVGSLSQRKRQQYA-KSKKQGNSSNSRPAR	104
CACNA1E	PVPA----------SGQ-----------AA>A<YKQTKAQRARTMAL-YNPIPVRQNCFTVNR	67
CACNA1F	PGP----P-------AV--------EGESS>G<ASGLGTPKRRNQHS-KHKTVAVASAQRSPR	70
CACNA1G	GGRP-----------G-----------PGS>A<-------EKDPG-SADSEAEGLPYPALAPV	59
CACNA1H	SPSE-----------S-----------P-A>A<-------ERGAELG-ADEEQRVPYPALAAT	78
CACNA1I	--RS--P-------PS-----------SPP>G<-------LEEPL-D-G-ADPHVPHPDLAPI	57
CACNA1S	------------------------------>-<---SSPQDEGLRKK-QPKKPVPEILPRPPR	29
SCN10A	KPRPQLDLKACNQLPKFYGELPAELIGEPL>E<DLDPFYSTHR-TFM-VLNKGRTISRFSATR	108
SCN11A	QPRPQLDLKASRKLPKLYGDIPRELIGKPL>E<DLDPFYRNHK-TFM-VLNRKRTIYRFSAKH	107
SCN1A	GPKPNSDLEAGKNLPFIYGDIPPEMVSEPL>E<DLDPYYINKK-TFI-VLNKGKAIFRFSATS	106
SCN2A	GPKPNSDLEAGKSLPFIYGDIPPEMVSVPL>E<DLDPYYINKK-TFI-VLNKGKAISRFSATP	107
SCN3A	KPKPNSDLEAGKNLPFIYGDIPPEMVSEPL>E<DLDPYYINKK-TFI-VMNKGKAIFRFSATS	106
SCN4A	ERKPRSDLEAGKNLPMIYGDPPPEVIGIPL>E<DLDPYYSNKK-TFI-VLNKGKAIFRFSATP	109
SCN5A	APRPQLDLQASKKLPDLYGNPPQELIGEPL>E<DLDPFYSTQK-TFI-VLNKGKTIFRFSATN	109
SCN7A	DLKPTPDLEVGKKLPFIYGNLSQGMVSEPL>E<DVDPYYYKKKNTFI-VLNKNRTIFRFNAAS	96
SCN8A	KPKPNSDLEAGKSLPFIYGDIPQGLVAVPL>E<DFDPYYLTQK-TFV-VLNRGKTLFRFSATP	110
SCN9A	APKPSSDLEAGKQLPFIYGDIPPGMVSEPL>E<DLDPYYADKK-TFI-VLNKGKTIFRFNATP	104
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 74 for CACNA1C.