Paralogue Annotation for CACNA1C residue 95

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 95
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to CACNA1C residue 95

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	I102V	Long QT syndrome and generalized epilepsy	Medium	6	25119684

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	SAGNATISTVSST-QRKRQQYG-KPKKQGS>T<TATRPPRALLCLTLKNPIRRACISIVEWKP	125
CACNA1A	-----QRMYKQSMAQRARTMAL-YNPIPVR>Q<NCLTVNRSLFLFSEDNVVRKYAKKITEWPP	99
CACNA1B	-----RVLYKQSIAQRARTMAL-YNPIPVK>Q<NCFTVNRSLFVFSEDNVVRKYAKRITEWPP	96
CACNA1D	TMSTSAPPPVGSLSQRKRQQYA-KSKKQGN>S<SNSRPARALFCLSLNNPIRRACISIVEWKP	127
CACNA1E	-----AAAYKQTKAQRARTMAL-YNPIPVR>Q<NCFTVNRSLFIFGEDNIVRKYAKKLIDWPP	90
CACNA1F	--EGESSGASGLGTPKRRNQHS-KHKTVAV>A<SAQRSPRALFCLTLANPLRRSCISIVEWKP	93
CACNA1G	----PGSA-------EKDPG-SADSEAEGL>P<YPALAPVVFFYLSQDSRPRSWCLRTVCNPW	82
CACNA1H	----P-AA-------ERGAELG-ADEEQRV>P<YPALAATVFFCLGQTTRPRSWCLRLVCNPW	101
CACNA1I	----SPPG-------LEEPL-D-G-ADPHV>P<HPDLAPIAFFCLRQTTSPRNWCIKMVCNPW	80
CACNA1S	-----------SSPQDEGLRKK-QPKKPVP>E<ILPRPPRALFCLTLENPLRKACISIVEWKP	52
SCN10A	ELIGEPLEDLDPFYSTHR-TFM-VLNKGRT>I<SRFSATRALWLFSPFNLIRRTAIKVSVHSW	131
SCN11A	ELIGKPLEDLDPFYRNHK-TFM-VLNRKRT>I<YRFSAKHALFIFGPFNSIRSLAIRVSVHSL	130
SCN1A	EMVSEPLEDLDPYYINKK-TFI-VLNKGKA>I<FRFSATSALYILTPFNPLRKIAIKILVHSL	129
SCN2A	EMVSVPLEDLDPYYINKK-TFI-VLNKGKA>I<SRFSATPALYILTPFNPIRKLAIKILVHSL	130
SCN3A	EMVSEPLEDLDPYYINKK-TFI-VMNKGKA>I<FRFSATSALYILTPLNPVRKIAIKILVHSL	129
SCN4A	EVIGIPLEDLDPYYSNKK-TFI-VLNKGKA>I<FRFSATPALYLLSPFSVVRRGAIKVLIHAL	132
SCN5A	ELIGEPLEDLDPFYSTQK-TFI-VLNKGKT>I<FRFSATNALYVLSPFHPIRRAAVKILVHSL	132
SCN7A	GMVSEPLEDVDPYYYKKKNTFI-VLNKNRT>I<FRFNAASILCTLSPFNCIRRTTIKVLVHPF	119
SCN8A	GLVAVPLEDFDPYYLTQK-TFV-VLNRGKT>L<FRFSATPALYILSPFNLIRRIAIKILIHSV	133
SCN9A	GMVSEPLEDLDPYYADKK-TFI-VLNKGKT>I<FRFNATPALYMLSPFSPLRRISIKILVHSL	127
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T95N	c.284C>A	Putative Benign			SIFT: Polyphen: