Paralogue Annotation for CACNA1C residue 743

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 743
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 743

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV982LDravet syndromeMedium9 19763161, 22309220

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.



CACNA1CYDGIMAYGGPSFPGMLVCIYFIILFICGNY>I<LLNVFLAIAVDNLADAESLTSAQKEEEEE-772
CACNA1AYDGIKSQGGV-QGGMVFSIYFIVLTLFGNY>T<LLNVFLAIAVDNLANAQELTKDEQEEEEA-733
CACNA1BYHGIESQGGV-SKGMFSSFYFIVLTLFGNY>T<LLNVFLAIAVDNLANAQELTKDEEEMEEA-729
CACNA1DYDGIMAYGGPSSSGMIVCIYFIILFICGNY>I<LLNVFLAIAVDNLADAESLNTAQKEEAEE-791
CACNA1EYNGIRSQGGV-SSGMWSAIYFIVLTLFGNY>T<LLNVFLAIAVDNLANAQELTKDEQEEEEA-722
CACNA1FYDGIMAYGGPFFPGMLVCIYFIILFICGNY>I<LLNVFLAIAVDNLASGDA-GTAKDKGGEK-776
CACNA1GYNGMAS-T-S----SWAALYFIALMTFGNY>V<LFNLLVAILVEGFQ-AEEISKREDASGQL-982
CACNA1HYNGMAS-T-S----SWAALYFVALMTFGNY>V<LFNLLVAILVEGFQ-AEGDANRSDTDEDKT1034
CACNA1IYNGMAS-T-S----PWASLYFVALMTFGNY>V<LFNLLVAILVEGFQAEGDAN-RSYSDEDQS881
CACNA1SYNGIMAYGGPSYPGMLVCIYFIILFVCGNY>I<LLNVFLAIAVDNLAEAESLTSAQKAKAEE-680
SCN10AWACMEV-----GQKSICLILFLTVMVLGNL>V<VLNLFIALLLNSFS-ADNLTAP-EDDGEV-907
SCN11AWECMQEAN---ASSSLCVIVFILITVIGKL>V<VLNLFIALLLNSFS-NEERNGNLEGEARK-829
SCN1AWDCMEV-----AGQAMCLTVFMMVMVIGNL>V<VLNLFLALLLSSFS-ADNLAAT-DDDNEM-1009
SCN2AWDCMEV-----AGQTMCLTVFMMVMVIGNL>V<VLNLFLALLLSSFS-SDNLAAT-DDDNEM-1000
SCN3AWDCMEV-----AGQTMCLIVFMLVMVIGNL>V<VLNLFLALLLSSFS-SDNLAAT-DDDNEM-1001
SCN4AWDCMEV-----AGQAMCLTVFLMVMVIGNL>V<VLNLFLALLLSSFS-ADSLAAS-DEDGEM-819
SCN5AWDCMEV-----SGQSLCLLVFLLVMVIGNL>V<VLNLFLALLLSSFS-ADNLTAP-DEDREM-956
SCN7AWDCMEV-----AGQSWCIPFYLMVILIGNL>L<VLYLFLA-LVSSFS-SCKDVTA-EENNEA-745
SCN8AWDCMEV-----AGQAMCLIVFMMVMVIGNL>V<VLNLFLALLLSSFS-ADNLAAT-DDDGEM-994
SCN9AWDCMEV-----AGQAMCLIVYMMVMVIGNL>V<VLNLFLALLLSSFS-SDNLTAI-EEDPDA-974
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 743 for CACNA1C.