Paralogue Annotation for CACNA1C residue 734

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 734
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 734

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM973KDravet syndromeMedium9 18930999
SCN1AM973VCryptogenic generalised epilepsyMedium9 17347258

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.



CACNA1CTGEDWNSVMYDGIMAYGGPSFPGMLVCIYF>I<ILFICGNYILLNVFLAIAVDNLADAESLTS764
CACNA1ATGEDWNEVMYDGIKSQGGV-QGGMVFSIYF>I<VLTLFGNYTLLNVFLAIAVDNLANAQELTK725
CACNA1BTGEDWNAVMYHGIESQGGV-SKGMFSSFYF>I<VLTLFGNYTLLNVFLAIAVDNLANAQELTK721
CACNA1DTGEDWNAVMYDGIMAYGGPSSSGMIVCIYF>I<ILFICGNYILLNVFLAIAVDNLADAESLNT783
CACNA1ETGEDWNEVMYNGIRSQGGV-SSGMWSAIYF>I<VLTLFGNYTLLNVFLAIAVDNLANAQELTK714
CACNA1FTGEDWNVVMYDGIMAYGGPFFPGMLVCIYF>I<ILFICGNYILLNVFLAIAVDNLASGDA-GT768
CACNA1GTQEDWNKVLYNGMAS-T-S----SWAALYF>I<ALMTFGNYVLFNLLVAILVEGFQ-AEEISK974
CACNA1HTQEDWNVVLYNGMAS-T-S----SWAALYF>V<ALMTFGNYVLFNLLVAILVEGFQ-AEGDAN1025
CACNA1ITQEDWNVVLYNGMAS-T-S----PWASLYF>V<ALMTFGNYVLFNLLVAILVEGFQAEGDAN-872
CACNA1STGEDWTSMMYNGIMAYGGPSYPGMLVCIYF>I<ILFVCGNYILLNVFLAIAVDNLAEAESLTS672
SCN10ACGE-WIENMWACMEV-----GQKSICLILF>L<TVMVLGNLVVLNLFIALLLNSFS-ADNLTA900
SCN11ACGE-WIENMWECMQEAN---ASSSLCVIVF>I<LITVIGKLVVLNLFIALLLNSFS-NEERNG821
SCN1ACGE-WIETMWDCMEV-----AGQAMCLTVF>M<MVMVIGNLVVLNLFLALLLSSFS-ADNLAA1002
SCN2ACGE-WIETMWDCMEV-----AGQTMCLTVF>M<MVMVIGNLVVLNLFLALLLSSFS-SDNLAA993
SCN3ACGE-WIETMWDCMEV-----AGQTMCLIVF>M<LVMVIGNLVVLNLFLALLLSSFS-SDNLAA994
SCN4ACGE-WIETMWDCMEV-----AGQAMCLTVF>L<MVMVIGNLVVLNLFLALLLSSFS-ADSLAA812
SCN5ACGE-WIETMWDCMEV-----SGQSLCLLVF>L<LVMVIGNLVVLNLFLALLLSSFS-ADNLTA949
SCN7ACGE-WVETLWDCMEV-----AGQSWCIPFY>L<MVILIGNLLVLYLFLA-LVSSFS-SCKDVT738
SCN8ACGE-WIETMWDCMEV-----AGQAMCLIVF>M<MVMVIGNLVVLNLFLALLLSSFS-ADNLAA987
SCN9ACGE-WIETMWDCMEV-----AGQAMCLIVY>M<MVMVIGNLVVLNLFLALLLSSFS-SDNLTA967
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 734 for CACNA1C.