Paralogue Annotation for CACNA1C residue 131

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 131
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 131

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM138IAtrial fibrillationMedium9 18378609, 25637381
SCN2AM136IEpileptic encephalopathy, early onsetMedium9 23708187
SCN10AT137MBrugada syndromeMedium9 24998131

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.



CACNA1CPRALLCLTLKNPIRRACISIVEWKPFEIII>L<LTIFANCVALAIYIPFPEDDSNATNSNLER161
CACNA1ANRSLFLFSEDNVVRKYAKKITEWPPFEYMI>L<ATIIANCIVLALEQHLPDDDKTPMSERLDD135
CACNA1BNRSLFVFSEDNVVRKYAKRITEWPPFEYMI>L<ATIIANCIVLALEQHLPDGDKTPMSERLDD132
CACNA1DARALFCLSLNNPIRRACISIVEWKPFDIFI>L<LAIFANCVALAIYIPFPEDDSNSTNHNLEK163
CACNA1ENRSLFIFGEDNIVRKYAKKLIDWPPFEYMI>L<ATIIANCIVLALEQHLPEDDKTPMSRRLEK126
CACNA1FPRALFCLTLANPLRRSCISIVEWKPFDILI>L<LTIFANCVALGVYIPFPEDDSNTANHNLEQ129
CACNA1GPVVFFYLSQDSRPRSWCLRTVCNPWFERIS>M<LVILLNCVTLGMFRPCEDIACDSQRCRILQ118
CACNA1HATVFFCLGQTTRPRSWCLRLVCNPWFEHVS>M<LVIMLNCVTLGMFRPCEDVECGSERCNILE137
CACNA1IPIAFFCLRQTTSPRNWCIKMVCNPWFECVS>M<LVILLNCVTLGMYQPCDDMDCLSDRCKILQ116
CACNA1SPRALFCLTLENPLRKACISIVEWKPFETII>L<LTIFANCVALAVYLPMPEDDNNSLNLGLEK88
SCN10ATRALWLFSPFNLIRRTAIKVSVHSWFSLFI>T<VTILVNCVCMTRT------D-LPE-----K155
SCN11AKHALFIFGPFNSIRSLAIRVSVHSLFSMFI>I<GTVIINCVFMATGPA-K--NSNSNNT--DI161
SCN1ATSALYILTPFNPLRKIAIKILVHSLFSMLI>M<CTILTNCVFMTMS------N-PPDWT--KN156
SCN2ATPALYILTPFNPIRKLAIKILVHSLFNMLI>M<CTILTNCVFMTMS------N-PPDWT--KN157
SCN3ATSALYILTPLNPVRKIAIKILVHSLFSMLI>M<CTILTNCVFMTLS------N-PPDWT--KN156
SCN4ATPALYLLSPFSVVRRGAIKVLIHALFSMFI>M<ITILTNCVFMTMS------D-PPPWS--KN159
SCN5ATNALYVLSPFHPIRRAAVKILVHSLFNMLI>M<CTILTNCVFMAQH------D-PPPWT--KY159
SCN7AASILCTLSPFNCIRRTTIKVLVHPFFQLFI>L<ISVLIDCVFMSLT------N-LPKWR--PV146
SCN8ATPALYILSPFNLIRRIAIKILIHSVFSMII>M<CTILTNCVFMTFS------N-PPDWS--KN160
SCN9ATPALYMLSPFSPLRRISIKILVHSLFSMLI>M<CTILTNCIFMTMN------N-PPDWT--KN154
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 131 for CACNA1C.