Paralogue Annotation for CACNA1C residue 738

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 738
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 738

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV977MDravet 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.



CACNA1CWNSVMYDGIMAYGGPSFPGMLVCIYFIILF>I<CGNYILLNVFLAIAVDNLADAESLTSAQKE768
CACNA1AWNEVMYDGIKSQGGV-QGGMVFSIYFIVLT>L<FGNYTLLNVFLAIAVDNLANAQELTKDEQE729
CACNA1BWNAVMYHGIESQGGV-SKGMFSSFYFIVLT>L<FGNYTLLNVFLAIAVDNLANAQELTKDEEE725
CACNA1DWNAVMYDGIMAYGGPSSSGMIVCIYFIILF>I<CGNYILLNVFLAIAVDNLADAESLNTAQKE787
CACNA1EWNEVMYNGIRSQGGV-SSGMWSAIYFIVLT>L<FGNYTLLNVFLAIAVDNLANAQELTKDEQE718
CACNA1FWNVVMYDGIMAYGGPFFPGMLVCIYFIILF>I<CGNYILLNVFLAIAVDNLASGDA-GTAKDK772
CACNA1GWNKVLYNGMAS-T-S----SWAALYFIALM>T<FGNYVLFNLLVAILVEGFQ-AEEISKREDA978
CACNA1HWNVVLYNGMAS-T-S----SWAALYFVALM>T<FGNYVLFNLLVAILVEGFQ-AEGDANRSDT1029
CACNA1IWNVVLYNGMAS-T-S----PWASLYFVALM>T<FGNYVLFNLLVAILVEGFQAEGDAN-RSYS876
CACNA1SWTSMMYNGIMAYGGPSYPGMLVCIYFIILF>V<CGNYILLNVFLAIAVDNLAEAESLTSAQKA676
SCN10AWIENMWACMEV-----GQKSICLILFLTVM>V<LGNLVVLNLFIALLLNSFS-ADNLTAP-ED903
SCN11AWIENMWECMQEAN---ASSSLCVIVFILIT>V<IGKLVVLNLFIALLLNSFS-NEERNGNLEG825
SCN1AWIETMWDCMEV-----AGQAMCLTVFMMVM>V<IGNLVVLNLFLALLLSSFS-ADNLAAT-DD1005
SCN2AWIETMWDCMEV-----AGQTMCLTVFMMVM>V<IGNLVVLNLFLALLLSSFS-SDNLAAT-DD996
SCN3AWIETMWDCMEV-----AGQTMCLIVFMLVM>V<IGNLVVLNLFLALLLSSFS-SDNLAAT-DD997
SCN4AWIETMWDCMEV-----AGQAMCLTVFLMVM>V<IGNLVVLNLFLALLLSSFS-ADSLAAS-DE815
SCN5AWIETMWDCMEV-----SGQSLCLLVFLLVM>V<IGNLVVLNLFLALLLSSFS-ADNLTAP-DE952
SCN7AWVETLWDCMEV-----AGQSWCIPFYLMVI>L<IGNLLVLYLFLA-LVSSFS-SCKDVTA-EE741
SCN8AWIETMWDCMEV-----AGQAMCLIVFMMVM>V<IGNLVVLNLFLALLLSSFS-ADNLAAT-DD990
SCN9AWIETMWDCMEV-----AGQAMCLIVYMMVM>V<IGNLVVLNLFLALLLSSFS-SDNLTAI-EE970
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 738 for CACNA1C.