Paralogue Annotation for CACNA1C residue 141

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 141
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 141

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM145TFebrile seizuresMedium9 16326807, 17565594, 25525159
SCN1AM145VDravet syndromeMedium9 26096185

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.



CACNA1CNPIRRACISIVEWKPFEIIILLTIFANCVA>L<AIYIPFPEDDSNATNSNLERVEYLFLI-IF170
CACNA1ANVVRKYAKKITEWPPFEYMILATIIANCIV>L<ALEQHLPDDDKTPMSERLDDTEPYFIG-IF144
CACNA1BNVVRKYAKRITEWPPFEYMILATIIANCIV>L<ALEQHLPDGDKTPMSERLDDTEPYFIG-IF141
CACNA1DNPIRRACISIVEWKPFDIFILLAIFANCVA>L<AIYIPFPEDDSNSTNHNLEKVEYAFLI-IF172
CACNA1ENIVRKYAKKLIDWPPFEYMILATIIANCIV>L<ALEQHLPEDDKTPMSRRLEKTEPYFIG-IF135
CACNA1FNPLRRSCISIVEWKPFDILILLTIFANCVA>L<GVYIPFPEDDSNTANHNLEQVEYVFLV-IF138
CACNA1GSRPRSWCLRTVCNPWFERISMLVILLNCVT>L<GMFRPCEDIACDSQRCRILQAFDDFIFAFF128
CACNA1HTRPRSWCLRLVCNPWFEHVSMLVIMLNCVT>L<GMFRPCEDVECGSERCNILEAFDAFIFAFF147
CACNA1ITSPRNWCIKMVCNPWFECVSMLVILLNCVT>L<GMYQPCDDMDCLSDRCKILQVFDDFIFIFF126
CACNA1SNPLRKACISIVEWKPFETIILLTIFANCVA>L<AVYLPMPEDDNNSLNLGLEKLEYFFLI-VF97
SCN10ANLIRRTAIKVSVHSWFSLFITVTILVNCVC>M<TRT------D-LPE-----KIEYVFTV-IY164
SCN11ANSIRSLAIRVSVHSLFSMFIIGTVIINCVF>M<ATGPA-K--NSNSNNT--DIAECVFTG-IY170
SCN1ANPLRKIAIKILVHSLFSMLIMCTILTNCVF>M<TMS------N-PPDWT--KNVEYTFTG-IY165
SCN2ANPIRKLAIKILVHSLFNMLIMCTILTNCVF>M<TMS------N-PPDWT--KNVEYTFTG-IY166
SCN3ANPVRKIAIKILVHSLFSMLIMCTILTNCVF>M<TLS------N-PPDWT--KNVEYTFTG-IY165
SCN4ASVVRRGAIKVLIHALFSMFIMITILTNCVF>M<TMS------D-PPPWS--KNVEYTFTG-IY168
SCN5AHPIRRAAVKILVHSLFNMLIMCTILTNCVF>M<AQH------D-PPPWT--KYVEYTFTA-IY168
SCN7ANCIRRTTIKVLVHPFFQLFILISVLIDCVF>M<SLT------N-LPKWR--PVLENTLLG-IY155
SCN8ANLIRRIAIKILIHSVFSMIIMCTILTNCVF>M<TFS------N-PPDWS--KNVEYTFTG-IY169
SCN9ASPLRRISIKILVHSLFSMLIMCTILTNCIF>M<TMN------N-PPDWT--KNVEYTFTG-IY163
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 141 for CACNA1C.