Paralogue Annotation for CACNA1C residue 109

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 109
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus


Paralogue Variants mapped to CACNA1C residue 109

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP113TDravet syndromeMedium9 24168886

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.



CACNA1CQRKRQQYG-KPKKQGSTTATRPPRALLCLT>L<KNPIRRACISIVEWKPFEIIILLTIFANCV139
CACNA1AQRARTMAL-YNPIPVRQNCLTVNRSLFLFS>E<DNVVRKYAKKITEWPPFEYMILATIIANCI113
CACNA1BQRARTMAL-YNPIPVKQNCFTVNRSLFVFS>E<DNVVRKYAKRITEWPPFEYMILATIIANCI110
CACNA1DQRKRQQYA-KSKKQGNSSNSRPARALFCLS>L<NNPIRRACISIVEWKPFDIFILLAIFANCV141
CACNA1EQRARTMAL-YNPIPVRQNCFTVNRSLFIFG>E<DNIVRKYAKKLIDWPPFEYMILATIIANCI104
CACNA1FPKRRNQHS-KHKTVAVASAQRSPRALFCLT>L<ANPLRRSCISIVEWKPFDILILLTIFANCV107
CACNA1G-EKDPG-SADSEAEGLPYPALAPVVFFYLS>Q<DSRPRSWCLRTVCNPWFERISMLVILLNCV96
CACNA1H-ERGAELG-ADEEQRVPYPALAATVFFCLG>Q<TTRPRSWCLRLVCNPWFEHVSMLVIMLNCV115
CACNA1I-LEEPL-D-G-ADPHVPHPDLAPIAFFCLR>Q<TTSPRNWCIKMVCNPWFECVSMLVILLNCV94
CACNA1SQDEGLRKK-QPKKPVPEILPRPPRALFCLT>L<ENPLRKACISIVEWKPFETIILLTIFANCV66
SCN10ASTHR-TFM-VLNKGRTISRFSATRALWLFS>P<FNLIRRTAIKVSVHSWFSLFITVTILVNCV145
SCN11ARNHK-TFM-VLNRKRTIYRFSAKHALFIFG>P<FNSIRSLAIRVSVHSLFSMFIIGTVIINCV144
SCN1AINKK-TFI-VLNKGKAIFRFSATSALYILT>P<FNPLRKIAIKILVHSLFSMLIMCTILTNCV143
SCN2AINKK-TFI-VLNKGKAISRFSATPALYILT>P<FNPIRKLAIKILVHSLFNMLIMCTILTNCV144
SCN3AINKK-TFI-VMNKGKAIFRFSATSALYILT>P<LNPVRKIAIKILVHSLFSMLIMCTILTNCV143
SCN4ASNKK-TFI-VLNKGKAIFRFSATPALYLLS>P<FSVVRRGAIKVLIHALFSMFIMITILTNCV146
SCN5ASTQK-TFI-VLNKGKTIFRFSATNALYVLS>P<FHPIRRAAVKILVHSLFNMLIMCTILTNCV146
SCN7AYKKKNTFI-VLNKNRTIFRFNAASILCTLS>P<FNCIRRTTIKVLVHPFFQLFILISVLIDCV133
SCN8ALTQK-TFV-VLNRGKTLFRFSATPALYILS>P<FNLIRRIAIKILIHSVFSMIIMCTILTNCV147
SCN9AADKK-TFI-VLNKGKTIFRFNATPALYMLS>P<FSPLRRISIKILVHSLFSMLIMCTILTNCI141
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 109 for CACNA1C.