Paralogue Annotation for CACNA1C residue 736

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 736
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 736

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN8AV960DEpileptic encephalopathyMedium9 25568300

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.



CACNA1CEDWNSVMYDGIMAYGGPSFPGMLVCIYFII>L<FICGNYILLNVFLAIAVDNLADAESLTSAQ766
CACNA1AEDWNEVMYDGIKSQGGV-QGGMVFSIYFIV>L<TLFGNYTLLNVFLAIAVDNLANAQELTKDE727
CACNA1BEDWNAVMYHGIESQGGV-SKGMFSSFYFIV>L<TLFGNYTLLNVFLAIAVDNLANAQELTKDE723
CACNA1DEDWNAVMYDGIMAYGGPSSSGMIVCIYFII>L<FICGNYILLNVFLAIAVDNLADAESLNTAQ785
CACNA1EEDWNEVMYNGIRSQGGV-SSGMWSAIYFIV>L<TLFGNYTLLNVFLAIAVDNLANAQELTKDE716
CACNA1FEDWNVVMYDGIMAYGGPFFPGMLVCIYFII>L<FICGNYILLNVFLAIAVDNLASGDA-GTAK770
CACNA1GEDWNKVLYNGMAS-T-S----SWAALYFIA>L<MTFGNYVLFNLLVAILVEGFQ-AEEISKRE976
CACNA1HEDWNVVLYNGMAS-T-S----SWAALYFVA>L<MTFGNYVLFNLLVAILVEGFQ-AEGDANRS1027
CACNA1IEDWNVVLYNGMAS-T-S----PWASLYFVA>L<MTFGNYVLFNLLVAILVEGFQAEGDAN-RS874
CACNA1SEDWTSMMYNGIMAYGGPSYPGMLVCIYFII>L<FVCGNYILLNVFLAIAVDNLAEAESLTSAQ674
SCN10AE-WIENMWACMEV-----GQKSICLILFLT>V<MVLGNLVVLNLFIALLLNSFS-ADNLTAP-901
SCN11AE-WIENMWECMQEAN---ASSSLCVIVFIL>I<TVIGKLVVLNLFIALLLNSFS-NEERNGNL823
SCN1AE-WIETMWDCMEV-----AGQAMCLTVFMM>V<MVIGNLVVLNLFLALLLSSFS-ADNLAAT-1003
SCN2AE-WIETMWDCMEV-----AGQTMCLTVFMM>V<MVIGNLVVLNLFLALLLSSFS-SDNLAAT-994
SCN3AE-WIETMWDCMEV-----AGQTMCLIVFML>V<MVIGNLVVLNLFLALLLSSFS-SDNLAAT-995
SCN4AE-WIETMWDCMEV-----AGQAMCLTVFLM>V<MVIGNLVVLNLFLALLLSSFS-ADSLAAS-813
SCN5AE-WIETMWDCMEV-----SGQSLCLLVFLL>V<MVIGNLVVLNLFLALLLSSFS-ADNLTAP-950
SCN7AE-WVETLWDCMEV-----AGQSWCIPFYLM>V<ILIGNLLVLYLFLA-LVSSFS-SCKDVTA-739
SCN8AE-WIETMWDCMEV-----AGQAMCLIVFMM>V<MVIGNLVVLNLFLALLLSSFS-ADNLAAT-988
SCN9AE-WIETMWDCMEV-----AGQAMCLIVYMM>V<MVIGNLVVLNLFLALLLSSFS-SDNLTAI-968
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 736 for CACNA1C.