Paralogue Annotation for CACNA1C residue 100

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 100
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 100

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA104VDravet syndromeMedium8 22848613

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.



CACNA1CTISTVSST-QRKRQQYG-KPKKQGSTTATR>P<PRALLCLTLKNPIRRACISIVEWKPFEIII130
CACNA1AQRMYKQSMAQRARTMAL-YNPIPVRQNCLT>V<NRSLFLFSEDNVVRKYAKKITEWPPFEYMI104
CACNA1BRVLYKQSIAQRARTMAL-YNPIPVKQNCFT>V<NRSLFVFSEDNVVRKYAKRITEWPPFEYMI101
CACNA1DAPPPVGSLSQRKRQQYA-KSKKQGNSSNSR>P<ARALFCLSLNNPIRRACISIVEWKPFDIFI132
CACNA1EAAAYKQTKAQRARTMAL-YNPIPVRQNCFT>V<NRSLFIFGEDNIVRKYAKKLIDWPPFEYMI95
CACNA1FSSGASGLGTPKRRNQHS-KHKTVAVASAQR>S<PRALFCLTLANPLRRSCISIVEWKPFDILI98
CACNA1GGSA-------EKDPG-SADSEAEGLPYPAL>A<PVVFFYLSQDSRPRSWCLRTVCNPWFERIS87
CACNA1H-AA-------ERGAELG-ADEEQRVPYPAL>A<ATVFFCLGQTTRPRSWCLRLVCNPWFEHVS106
CACNA1IPPG-------LEEPL-D-G-ADPHVPHPDL>A<PIAFFCLRQTTSPRNWCIKMVCNPWFECVS85
CACNA1S------SSPQDEGLRKK-QPKKPVPEILPR>P<PRALFCLTLENPLRKACISIVEWKPFETII57
SCN10APLEDLDPFYSTHR-TFM-VLNKGRTISRFS>A<TRALWLFSPFNLIRRTAIKVSVHSWFSLFI136
SCN11APLEDLDPFYRNHK-TFM-VLNRKRTIYRFS>A<KHALFIFGPFNSIRSLAIRVSVHSLFSMFI135
SCN1APLEDLDPYYINKK-TFI-VLNKGKAIFRFS>A<TSALYILTPFNPLRKIAIKILVHSLFSMLI134
SCN2APLEDLDPYYINKK-TFI-VLNKGKAISRFS>A<TPALYILTPFNPIRKLAIKILVHSLFNMLI135
SCN3APLEDLDPYYINKK-TFI-VMNKGKAIFRFS>A<TSALYILTPLNPVRKIAIKILVHSLFSMLI134
SCN4APLEDLDPYYSNKK-TFI-VLNKGKAIFRFS>A<TPALYLLSPFSVVRRGAIKVLIHALFSMFI137
SCN5APLEDLDPFYSTQK-TFI-VLNKGKTIFRFS>A<TNALYVLSPFHPIRRAAVKILVHSLFNMLI137
SCN7APLEDVDPYYYKKKNTFI-VLNKNRTIFRFN>A<ASILCTLSPFNCIRRTTIKVLVHPFFQLFI124
SCN8APLEDFDPYYLTQK-TFV-VLNRGKTLFRFS>A<TPALYILSPFNLIRRIAIKILIHSVFSMII138
SCN9APLEDLDPYYADKK-TFI-VLNKGKTIFRFN>A<TPALYMLSPFSPLRRISIKILVHSLFSMLI132
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 100 for CACNA1C.