Paralogue Annotation for CACNA1C residue 99

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 99
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 99

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S103G	Myoclonic epilepsy of infancy	Medium	8	12566275
SCN1A	S103I	Dravet syndrome	Medium	8	26096185

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	ATISTVSST-QRKRQQYG-KPKKQGSTTAT>R<PPRALLCLTLKNPIRRACISIVEWKPFEII	129
CACNA1A	-QRMYKQSMAQRARTMAL-YNPIPVRQNCL>T<VNRSLFLFSEDNVVRKYAKKITEWPPFEYM	103
CACNA1B	-RVLYKQSIAQRARTMAL-YNPIPVKQNCF>T<VNRSLFVFSEDNVVRKYAKRITEWPPFEYM	100
CACNA1D	SAPPPVGSLSQRKRQQYA-KSKKQGNSSNS>R<PARALFCLSLNNPIRRACISIVEWKPFDIF	131
CACNA1E	-AAAYKQTKAQRARTMAL-YNPIPVRQNCF>T<VNRSLFIFGEDNIVRKYAKKLIDWPPFEYM	94
CACNA1F	ESSGASGLGTPKRRNQHS-KHKTVAVASAQ>R<SPRALFCLTLANPLRRSCISIVEWKPFDIL	97
CACNA1G	PGSA-------EKDPG-SADSEAEGLPYPA>L<APVVFFYLSQDSRPRSWCLRTVCNPWFERI	86
CACNA1H	P-AA-------ERGAELG-ADEEQRVPYPA>L<AATVFFCLGQTTRPRSWCLRLVCNPWFEHV	105
CACNA1I	SPPG-------LEEPL-D-G-ADPHVPHPD>L<APIAFFCLRQTTSPRNWCIKMVCNPWFECV	84
CACNA1S	-------SSPQDEGLRKK-QPKKPVPEILP>R<PPRALFCLTLENPLRKACISIVEWKPFETI	56
SCN10A	EPLEDLDPFYSTHR-TFM-VLNKGRTISRF>S<ATRALWLFSPFNLIRRTAIKVSVHSWFSLF	135
SCN11A	KPLEDLDPFYRNHK-TFM-VLNRKRTIYRF>S<AKHALFIFGPFNSIRSLAIRVSVHSLFSMF	134
SCN1A	EPLEDLDPYYINKK-TFI-VLNKGKAIFRF>S<ATSALYILTPFNPLRKIAIKILVHSLFSML	133
SCN2A	VPLEDLDPYYINKK-TFI-VLNKGKAISRF>S<ATPALYILTPFNPIRKLAIKILVHSLFNML	134
SCN3A	EPLEDLDPYYINKK-TFI-VMNKGKAIFRF>S<ATSALYILTPLNPVRKIAIKILVHSLFSML	133
SCN4A	IPLEDLDPYYSNKK-TFI-VLNKGKAIFRF>S<ATPALYLLSPFSVVRRGAIKVLIHALFSMF	136
SCN5A	EPLEDLDPFYSTQK-TFI-VLNKGKTIFRF>S<ATNALYVLSPFHPIRRAAVKILVHSLFNML	136
SCN7A	EPLEDVDPYYYKKKNTFI-VLNKNRTIFRF>N<AASILCTLSPFNCIRRTTIKVLVHPFFQLF	123
SCN8A	VPLEDFDPYYLTQK-TFV-VLNRGKTLFRF>S<ATPALYILSPFNLIRRIAIKILIHSVFSMI	137
SCN9A	EPLEDLDPYYADKK-TFI-VLNKGKTIFRF>N<ATPALYMLSPFSPLRRISIKILVHSLFSML	131
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R99C	c.295C>T	Putative Benign			SIFT: Polyphen: