Paralogue Annotation for CACNA1C residue 139

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 139
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 139

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV146MBrugada syndromeHigh9 20129283

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.



CACNA1CLKNPIRRACISIVEWKPFEIIILLTIFANC>V<ALAIYIPFPEDDSNATNSNLERVEYLFLI-168
CACNA1AEDNVVRKYAKKITEWPPFEYMILATIIANC>I<VLALEQHLPDDDKTPMSERLDDTEPYFIG-142
CACNA1BEDNVVRKYAKRITEWPPFEYMILATIIANC>I<VLALEQHLPDGDKTPMSERLDDTEPYFIG-139
CACNA1DLNNPIRRACISIVEWKPFDIFILLAIFANC>V<ALAIYIPFPEDDSNSTNHNLEKVEYAFLI-170
CACNA1EEDNIVRKYAKKLIDWPPFEYMILATIIANC>I<VLALEQHLPEDDKTPMSRRLEKTEPYFIG-133
CACNA1FLANPLRRSCISIVEWKPFDILILLTIFANC>V<ALGVYIPFPEDDSNTANHNLEQVEYVFLV-136
CACNA1GQDSRPRSWCLRTVCNPWFERISMLVILLNC>V<TLGMFRPCEDIACDSQRCRILQAFDDFIFA126
CACNA1HQTTRPRSWCLRLVCNPWFEHVSMLVIMLNC>V<TLGMFRPCEDVECGSERCNILEAFDAFIFA145
CACNA1IQTTSPRNWCIKMVCNPWFECVSMLVILLNC>V<TLGMYQPCDDMDCLSDRCKILQVFDDFIFI124
CACNA1SLENPLRKACISIVEWKPFETIILLTIFANC>V<ALAVYLPMPEDDNNSLNLGLEKLEYFFLI-95
SCN10APFNLIRRTAIKVSVHSWFSLFITVTILVNC>V<CMTRT------D-LPE-----KIEYVFTV-162
SCN11APFNSIRSLAIRVSVHSLFSMFIIGTVIINC>V<FMATGPA-K--NSNSNNT--DIAECVFTG-168
SCN1APFNPLRKIAIKILVHSLFSMLIMCTILTNC>V<FMTMS------N-PPDWT--KNVEYTFTG-163
SCN2APFNPIRKLAIKILVHSLFNMLIMCTILTNC>V<FMTMS------N-PPDWT--KNVEYTFTG-164
SCN3APLNPVRKIAIKILVHSLFSMLIMCTILTNC>V<FMTLS------N-PPDWT--KNVEYTFTG-163
SCN4APFSVVRRGAIKVLIHALFSMFIMITILTNC>V<FMTMS------D-PPPWS--KNVEYTFTG-166
SCN5APFHPIRRAAVKILVHSLFNMLIMCTILTNC>V<FMAQH------D-PPPWT--KYVEYTFTA-166
SCN7APFNCIRRTTIKVLVHPFFQLFILISVLIDC>V<FMSLT------N-LPKWR--PVLENTLLG-153
SCN8APFNLIRRIAIKILIHSVFSMIIMCTILTNC>V<FMTFS------N-PPDWS--KNVEYTFTG-167
SCN9APFSPLRRISIKILVHSLFSMLIMCTILTNC>I<FMTMN------N-PPDWT--KNVEYTFTG-161
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 139 for CACNA1C.