Paralogue Annotation for CACNA1C residue 101

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 101
Reference Amino Acid: P - Proline
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 101

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T105I	Myoclonic epilepsy of infancy	Medium	8	23195492

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	ISTVSST-QRKRQQYG-KPKKQGSTTATRP>P<RALLCLTLKNPIRRACISIVEWKPFEIIIL	131
CACNA1A	RMYKQSMAQRARTMAL-YNPIPVRQNCLTV>N<RSLFLFSEDNVVRKYAKKITEWPPFEYMIL	105
CACNA1B	VLYKQSIAQRARTMAL-YNPIPVKQNCFTV>N<RSLFVFSEDNVVRKYAKRITEWPPFEYMIL	102
CACNA1D	PPPVGSLSQRKRQQYA-KSKKQGNSSNSRP>A<RALFCLSLNNPIRRACISIVEWKPFDIFIL	133
CACNA1E	AAYKQTKAQRARTMAL-YNPIPVRQNCFTV>N<RSLFIFGEDNIVRKYAKKLIDWPPFEYMIL	96
CACNA1F	SGASGLGTPKRRNQHS-KHKTVAVASAQRS>P<RALFCLTLANPLRRSCISIVEWKPFDILIL	99
CACNA1G	SA-------EKDPG-SADSEAEGLPYPALA>P<VVFFYLSQDSRPRSWCLRTVCNPWFERISM	88
CACNA1H	AA-------ERGAELG-ADEEQRVPYPALA>A<TVFFCLGQTTRPRSWCLRLVCNPWFEHVSM	107
CACNA1I	PG-------LEEPL-D-G-ADPHVPHPDLA>P<IAFFCLRQTTSPRNWCIKMVCNPWFECVSM	86
CACNA1S	-----SSPQDEGLRKK-QPKKPVPEILPRP>P<RALFCLTLENPLRKACISIVEWKPFETIIL	58
SCN10A	LEDLDPFYSTHR-TFM-VLNKGRTISRFSA>T<RALWLFSPFNLIRRTAIKVSVHSWFSLFIT	137
SCN11A	LEDLDPFYRNHK-TFM-VLNRKRTIYRFSA>K<HALFIFGPFNSIRSLAIRVSVHSLFSMFII	136
SCN1A	LEDLDPYYINKK-TFI-VLNKGKAIFRFSA>T<SALYILTPFNPLRKIAIKILVHSLFSMLIM	135
SCN2A	LEDLDPYYINKK-TFI-VLNKGKAISRFSA>T<PALYILTPFNPIRKLAIKILVHSLFNMLIM	136
SCN3A	LEDLDPYYINKK-TFI-VMNKGKAIFRFSA>T<SALYILTPLNPVRKIAIKILVHSLFSMLIM	135
SCN4A	LEDLDPYYSNKK-TFI-VLNKGKAIFRFSA>T<PALYLLSPFSVVRRGAIKVLIHALFSMFIM	138
SCN5A	LEDLDPFYSTQK-TFI-VLNKGKTIFRFSA>T<NALYVLSPFHPIRRAAVKILVHSLFNMLIM	138
SCN7A	LEDVDPYYYKKKNTFI-VLNKNRTIFRFNA>A<SILCTLSPFNCIRRTTIKVLVHPFFQLFIL	125
SCN8A	LEDFDPYYLTQK-TFV-VLNRGKTLFRFSA>T<PALYILSPFNLIRRIAIKILIHSVFSMIIM	139
SCN9A	LEDLDPYYADKK-TFI-VLNKGKTIFRFNA>T<PALYMLSPFSPLRRISIKILVHSLFSMLIM	133
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 101 for CACNA1C.