Paralogue Annotation for CACNA1C residue 127

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 127
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 127

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	N132K	Epileptic encephalopathy, early onset	Medium	9	24659627
CACNA1F	D95N	High myopia	Medium	9	26747767
CACNA1A	E101Q	Epilepsy of infancy with migrating focal seizures	High	9	27476654

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	ATRPPRALLCLTLKNPIRRACISIVEWKPF>E<IIILLTIFANCVALAIYIPFPEDDSNATNS	157
CACNA1A	CLTVNRSLFLFSEDNVVRKYAKKITEWPPF>E<YMILATIIANCIVLALEQHLPDDDKTPMSE	131
CACNA1B	CFTVNRSLFVFSEDNVVRKYAKRITEWPPF>E<YMILATIIANCIVLALEQHLPDGDKTPMSE	128
CACNA1D	NSRPARALFCLSLNNPIRRACISIVEWKPF>D<IFILLAIFANCVALAIYIPFPEDDSNSTNH	159
CACNA1E	CFTVNRSLFIFGEDNIVRKYAKKLIDWPPF>E<YMILATIIANCIVLALEQHLPEDDKTPMSR	122
CACNA1F	AQRSPRALFCLTLANPLRRSCISIVEWKPF>D<ILILLTIFANCVALGVYIPFPEDDSNTANH	125
CACNA1G	PALAPVVFFYLSQDSRPRSWCLRTVCNPWF>E<RISMLVILLNCVTLGMFRPCEDIACDSQRC	114
CACNA1H	PALAATVFFCLGQTTRPRSWCLRLVCNPWF>E<HVSMLVIMLNCVTLGMFRPCEDVECGSERC	133
CACNA1I	PDLAPIAFFCLRQTTSPRNWCIKMVCNPWF>E<CVSMLVILLNCVTLGMYQPCDDMDCLSDRC	112
CACNA1S	LPRPPRALFCLTLENPLRKACISIVEWKPF>E<TIILLTIFANCVALAVYLPMPEDDNNSLNL	84
SCN10A	RFSATRALWLFSPFNLIRRTAIKVSVHSWF>S<LFITVTILVNCVCMTRT------D-LPE--	154
SCN11A	RFSAKHALFIFGPFNSIRSLAIRVSVHSLF>S<MFIIGTVIINCVFMATGPA-K--NSNSNNT	159
SCN1A	RFSATSALYILTPFNPLRKIAIKILVHSLF>S<MLIMCTILTNCVFMTMS------N-PPDWT	154
SCN2A	RFSATPALYILTPFNPIRKLAIKILVHSLF>N<MLIMCTILTNCVFMTMS------N-PPDWT	155
SCN3A	RFSATSALYILTPLNPVRKIAIKILVHSLF>S<MLIMCTILTNCVFMTLS------N-PPDWT	154
SCN4A	RFSATPALYLLSPFSVVRRGAIKVLIHALF>S<MFIMITILTNCVFMTMS------D-PPPWS	157
SCN5A	RFSATNALYVLSPFHPIRRAAVKILVHSLF>N<MLIMCTILTNCVFMAQH------D-PPPWT	157
SCN7A	RFNAASILCTLSPFNCIRRTTIKVLVHPFF>Q<LFILISVLIDCVFMSLT------N-LPKWR	144
SCN8A	RFSATPALYILSPFNLIRRIAIKILIHSVF>S<MIIMCTILTNCVFMTFS------N-PPDWS	158
SCN9A	RFNATPALYMLSPFSPLRRISIKILVHSLF>S<MLIMCTILTNCIFMTMN------N-PPDWT	152
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 127 for CACNA1C.