Paralogue Annotation for CACNA1C residue 102

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 102
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 102

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	N109K	Brugada syndrome	Medium	8	19843921
CACNA1F	R70W	Night blindness, congenital stationary 2	High	8	23714322
SCN1A	S106F	Dravet syndrome	Medium	8	24902755

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	STVSST-QRKRQQYG-KPKKQGSTTATRPP>R<ALLCLTLKNPIRRACISIVEWKPFEIIILL	132
CACNA1A	MYKQSMAQRARTMAL-YNPIPVRQNCLTVN>R<SLFLFSEDNVVRKYAKKITEWPPFEYMILA	106
CACNA1B	LYKQSIAQRARTMAL-YNPIPVKQNCFTVN>R<SLFVFSEDNVVRKYAKRITEWPPFEYMILA	103
CACNA1D	PPVGSLSQRKRQQYA-KSKKQGNSSNSRPA>R<ALFCLSLNNPIRRACISIVEWKPFDIFILL	134
CACNA1E	AYKQTKAQRARTMAL-YNPIPVRQNCFTVN>R<SLFIFGEDNIVRKYAKKLIDWPPFEYMILA	97
CACNA1F	GASGLGTPKRRNQHS-KHKTVAVASAQRSP>R<ALFCLTLANPLRRSCISIVEWKPFDILILL	100
CACNA1G	A-------EKDPG-SADSEAEGLPYPALAP>V<VFFYLSQDSRPRSWCLRTVCNPWFERISML	89
CACNA1H	A-------ERGAELG-ADEEQRVPYPALAA>T<VFFCLGQTTRPRSWCLRLVCNPWFEHVSML	108
CACNA1I	G-------LEEPL-D-G-ADPHVPHPDLAP>I<AFFCLRQTTSPRNWCIKMVCNPWFECVSML	87
CACNA1S	----SSPQDEGLRKK-QPKKPVPEILPRPP>R<ALFCLTLENPLRKACISIVEWKPFETIILL	59
SCN10A	EDLDPFYSTHR-TFM-VLNKGRTISRFSAT>R<ALWLFSPFNLIRRTAIKVSVHSWFSLFITV	138
SCN11A	EDLDPFYRNHK-TFM-VLNRKRTIYRFSAK>H<ALFIFGPFNSIRSLAIRVSVHSLFSMFIIG	137
SCN1A	EDLDPYYINKK-TFI-VLNKGKAIFRFSAT>S<ALYILTPFNPLRKIAIKILVHSLFSMLIMC	136
SCN2A	EDLDPYYINKK-TFI-VLNKGKAISRFSAT>P<ALYILTPFNPIRKLAIKILVHSLFNMLIMC	137
SCN3A	EDLDPYYINKK-TFI-VMNKGKAIFRFSAT>S<ALYILTPLNPVRKIAIKILVHSLFSMLIMC	136
SCN4A	EDLDPYYSNKK-TFI-VLNKGKAIFRFSAT>P<ALYLLSPFSVVRRGAIKVLIHALFSMFIMI	139
SCN5A	EDLDPFYSTQK-TFI-VLNKGKTIFRFSAT>N<ALYVLSPFHPIRRAAVKILVHSLFNMLIMC	139
SCN7A	EDVDPYYYKKKNTFI-VLNKNRTIFRFNAA>S<ILCTLSPFNCIRRTTIKVLVHPFFQLFILI	126
SCN8A	EDFDPYYLTQK-TFV-VLNRGKTLFRFSAT>P<ALYILSPFNLIRRIAIKILIHSVFSMIIMC	140
SCN9A	EDLDPYYADKK-TFI-VLNKGKTIFRFNAT>P<ALYMLSPFSPLRRISIKILVHSLFSMLIMC	134
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 102 for CACNA1C.