Paralogue Annotation for CACNA1C residue 742

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 742
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 742

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL928PBrugada syndromeMedium9 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.



CACNA1CMYDGIMAYGGPSFPGMLVCIYFIILFICGN>Y<ILLNVFLAIAVDNLADAESLTSAQKEEEEE772
CACNA1AMYDGIKSQGGV-QGGMVFSIYFIVLTLFGN>Y<TLLNVFLAIAVDNLANAQELTKDEQEEEEA733
CACNA1BMYHGIESQGGV-SKGMFSSFYFIVLTLFGN>Y<TLLNVFLAIAVDNLANAQELTKDEEEMEEA729
CACNA1DMYDGIMAYGGPSSSGMIVCIYFIILFICGN>Y<ILLNVFLAIAVDNLADAESLNTAQKEEAEE791
CACNA1EMYNGIRSQGGV-SSGMWSAIYFIVLTLFGN>Y<TLLNVFLAIAVDNLANAQELTKDEQEEEEA722
CACNA1FMYDGIMAYGGPFFPGMLVCIYFIILFICGN>Y<ILLNVFLAIAVDNLASGDA-GTAKDKGGEK776
CACNA1GLYNGMAS-T-S----SWAALYFIALMTFGN>Y<VLFNLLVAILVEGFQ-AEEISKREDASGQL982
CACNA1HLYNGMAS-T-S----SWAALYFVALMTFGN>Y<VLFNLLVAILVEGFQ-AEGDANRSDTDEDK1033
CACNA1ILYNGMAS-T-S----PWASLYFVALMTFGN>Y<VLFNLLVAILVEGFQAEGDAN-RSYSDEDQ880
CACNA1SMYNGIMAYGGPSYPGMLVCIYFIILFVCGN>Y<ILLNVFLAIAVDNLAEAESLTSAQKAKAEE680
SCN10AMWACMEV-----GQKSICLILFLTVMVLGN>L<VVLNLFIALLLNSFS-ADNLTAP-EDDGEV907
SCN11AMWECMQEAN---ASSSLCVIVFILITVIGK>L<VVLNLFIALLLNSFS-NEERNGNLEGEARK829
SCN1AMWDCMEV-----AGQAMCLTVFMMVMVIGN>L<VVLNLFLALLLSSFS-ADNLAAT-DDDNEM1009
SCN2AMWDCMEV-----AGQTMCLTVFMMVMVIGN>L<VVLNLFLALLLSSFS-SDNLAAT-DDDNEM1000
SCN3AMWDCMEV-----AGQTMCLIVFMLVMVIGN>L<VVLNLFLALLLSSFS-SDNLAAT-DDDNEM1001
SCN4AMWDCMEV-----AGQAMCLTVFLMVMVIGN>L<VVLNLFLALLLSSFS-ADSLAAS-DEDGEM819
SCN5AMWDCMEV-----SGQSLCLLVFLLVMVIGN>L<VVLNLFLALLLSSFS-ADNLTAP-DEDREM956
SCN7ALWDCMEV-----AGQSWCIPFYLMVILIGN>L<LVLYLFLA-LVSSFS-SCKDVTA-EENNEA745
SCN8AMWDCMEV-----AGQAMCLIVFMMVMVIGN>L<VVLNLFLALLLSSFS-ADNLAAT-DDDGEM994
SCN9AMWDCMEV-----AGQAMCLIVYMMVMVIGN>L<VVLNLFLALLLSSFS-SDNLTAI-EEDPDA974
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 742 for CACNA1C.