Paralogue Annotation for CACNA1C residue 106

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 106
Reference Amino Acid: C - Cysteine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 106

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	C74R	Night blindness, congenital stationary, incomplete	High	9	12111638, 22334370, 23714322
SCN5A	V113I	Long QT syndrome	Medium	9	20541041

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	ST-QRKRQQYG-KPKKQGSTTATRPPRALL>C<LTLKNPIRRACISIVEWKPFEIIILLTIFA	136
CACNA1A	SMAQRARTMAL-YNPIPVRQNCLTVNRSLF>L<FSEDNVVRKYAKKITEWPPFEYMILATIIA	110
CACNA1B	SIAQRARTMAL-YNPIPVKQNCFTVNRSLF>V<FSEDNVVRKYAKRITEWPPFEYMILATIIA	107
CACNA1D	SLSQRKRQQYA-KSKKQGNSSNSRPARALF>C<LSLNNPIRRACISIVEWKPFDIFILLAIFA	138
CACNA1E	TKAQRARTMAL-YNPIPVRQNCFTVNRSLF>I<FGEDNIVRKYAKKLIDWPPFEYMILATIIA	101
CACNA1F	LGTPKRRNQHS-KHKTVAVASAQRSPRALF>C<LTLANPLRRSCISIVEWKPFDILILLTIFA	104
CACNA1G	----EKDPG-SADSEAEGLPYPALAPVVFF>Y<LSQDSRPRSWCLRTVCNPWFERISMLVILL	93
CACNA1H	----ERGAELG-ADEEQRVPYPALAATVFF>C<LGQTTRPRSWCLRLVCNPWFEHVSMLVIML	112
CACNA1I	----LEEPL-D-G-ADPHVPHPDLAPIAFF>C<LRQTTSPRNWCIKMVCNPWFECVSMLVILL	91
CACNA1S	SSPQDEGLRKK-QPKKPVPEILPRPPRALF>C<LTLENPLRKACISIVEWKPFETIILLTIFA	63
SCN10A	PFYSTHR-TFM-VLNKGRTISRFSATRALW>L<FSPFNLIRRTAIKVSVHSWFSLFITVTILV	142
SCN11A	PFYRNHK-TFM-VLNRKRTIYRFSAKHALF>I<FGPFNSIRSLAIRVSVHSLFSMFIIGTVII	141
SCN1A	PYYINKK-TFI-VLNKGKAIFRFSATSALY>I<LTPFNPLRKIAIKILVHSLFSMLIMCTILT	140
SCN2A	PYYINKK-TFI-VLNKGKAISRFSATPALY>I<LTPFNPIRKLAIKILVHSLFNMLIMCTILT	141
SCN3A	PYYINKK-TFI-VMNKGKAIFRFSATSALY>I<LTPLNPVRKIAIKILVHSLFSMLIMCTILT	140
SCN4A	PYYSNKK-TFI-VLNKGKAIFRFSATPALY>L<LSPFSVVRRGAIKVLIHALFSMFIMITILT	143
SCN5A	PFYSTQK-TFI-VLNKGKTIFRFSATNALY>V<LSPFHPIRRAAVKILVHSLFNMLIMCTILT	143
SCN7A	PYYYKKKNTFI-VLNKNRTIFRFNAASILC>T<LSPFNCIRRTTIKVLVHPFFQLFILISVLI	130
SCN8A	PYYLTQK-TFV-VLNRGKTLFRFSATPALY>I<LSPFNLIRRIAIKILIHSVFSMIIMCTILT	144
SCN9A	PYYADKK-TFI-VLNKGKTIFRFNATPALY>M<LSPFSPLRRISIKILVHSLFSMLIMCTILT	138
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 106 for CACNA1C.