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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AN132KEpileptic encephalopathy, early onsetMedium9 24659627
CACNA1FD95NHigh myopiaMedium9 26747767
CACNA1AE101QEpilepsy of infancy with migrating focal seizuresHigh9 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.



CACNA1CATRPPRALLCLTLKNPIRRACISIVEWKPF>E<IIILLTIFANCVALAIYIPFPEDDSNATNS157
CACNA1ACLTVNRSLFLFSEDNVVRKYAKKITEWPPF>E<YMILATIIANCIVLALEQHLPDDDKTPMSE131
CACNA1BCFTVNRSLFVFSEDNVVRKYAKRITEWPPF>E<YMILATIIANCIVLALEQHLPDGDKTPMSE128
CACNA1DNSRPARALFCLSLNNPIRRACISIVEWKPF>D<IFILLAIFANCVALAIYIPFPEDDSNSTNH159
CACNA1ECFTVNRSLFIFGEDNIVRKYAKKLIDWPPF>E<YMILATIIANCIVLALEQHLPEDDKTPMSR122
CACNA1FAQRSPRALFCLTLANPLRRSCISIVEWKPF>D<ILILLTIFANCVALGVYIPFPEDDSNTANH125
CACNA1GPALAPVVFFYLSQDSRPRSWCLRTVCNPWF>E<RISMLVILLNCVTLGMFRPCEDIACDSQRC114
CACNA1HPALAATVFFCLGQTTRPRSWCLRLVCNPWF>E<HVSMLVIMLNCVTLGMFRPCEDVECGSERC133
CACNA1IPDLAPIAFFCLRQTTSPRNWCIKMVCNPWF>E<CVSMLVILLNCVTLGMYQPCDDMDCLSDRC112
CACNA1SLPRPPRALFCLTLENPLRKACISIVEWKPF>E<TIILLTIFANCVALAVYLPMPEDDNNSLNL84
SCN10ARFSATRALWLFSPFNLIRRTAIKVSVHSWF>S<LFITVTILVNCVCMTRT------D-LPE--154
SCN11ARFSAKHALFIFGPFNSIRSLAIRVSVHSLF>S<MFIIGTVIINCVFMATGPA-K--NSNSNNT159
SCN1ARFSATSALYILTPFNPLRKIAIKILVHSLF>S<MLIMCTILTNCVFMTMS------N-PPDWT154
SCN2ARFSATPALYILTPFNPIRKLAIKILVHSLF>N<MLIMCTILTNCVFMTMS------N-PPDWT155
SCN3ARFSATSALYILTPLNPVRKIAIKILVHSLF>S<MLIMCTILTNCVFMTLS------N-PPDWT154
SCN4ARFSATPALYLLSPFSVVRRGAIKVLIHALF>S<MFIMITILTNCVFMTMS------D-PPPWS157
SCN5ARFSATNALYVLSPFHPIRRAAVKILVHSLF>N<MLIMCTILTNCVFMAQH------D-PPPWT157
SCN7ARFNAASILCTLSPFNCIRRTTIKVLVHPFF>Q<LFILISVLIDCVFMSLT------N-LPKWR144
SCN8ARFSATPALYILSPFNLIRRIAIKILIHSVF>S<MIIMCTILTNCVFMTFS------N-PPDWS158
SCN9ARFNATPALYMLSPFSPLRRISIKILVHSLF>S<MLIMCTILTNCIFMTMN------N-PPDWT152
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

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