Paralogue Annotation for CACNA1C residue 729

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 729
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 729

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AC915RBrugada syndromeMedium9 20129283
SCN1AC968XDravet syndromeMedium9 18930999, 23195492, 25525159
SCN1AC968FDravet 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.



CACNA1CVFQILTGEDWNSVMYDGIMAYGGPSFPGML>V<CIYFIILFICGNYILLNVFLAIAVDNLADA759
CACNA1AVFQILTGEDWNEVMYDGIKSQGGV-QGGMV>F<SIYFIVLTLFGNYTLLNVFLAIAVDNLANA720
CACNA1BVFQILTGEDWNAVMYHGIESQGGV-SKGMF>S<SFYFIVLTLFGNYTLLNVFLAIAVDNLANA716
CACNA1DVFQILTGEDWNAVMYDGIMAYGGPSSSGMI>V<CIYFIILFICGNYILLNVFLAIAVDNLADA778
CACNA1EVFQILTGEDWNEVMYNGIRSQGGV-SSGMW>S<AIYFIVLTLFGNYTLLNVFLAIAVDNLANA709
CACNA1FVFQILTGEDWNVVMYDGIMAYGGPFFPGML>V<CIYFIILFICGNYILLNVFLAIAVDNLASG764
CACNA1GVFQILTQEDWNKVLYNGMAS-T-S----SW>A<ALYFIALMTFGNYVLFNLLVAILVEGFQ-A969
CACNA1HVFQILTQEDWNVVLYNGMAS-T-S----SW>A<ALYFVALMTFGNYVLFNLLVAILVEGFQ-A1020
CACNA1IVFQILTQEDWNVVLYNGMAS-T-S----PW>A<SLYFVALMTFGNYVLFNLLVAILVEGFQAE868
CACNA1SVFQVLTGEDWTSMMYNGIMAYGGPSYPGML>V<CIYFIILFVCGNYILLNVFLAIAVDNLAEA667
SCN10AVFRILCGE-WIENMWACMEV-----GQKSI>C<LILFLTVMVLGNLVVLNLFIALLLNSFS-A895
SCN11AVFRILCGE-WIENMWECMQEAN---ASSSL>C<VIVFILITVIGKLVVLNLFIALLLNSFS-N816
SCN1AVFRVLCGE-WIETMWDCMEV-----AGQAM>C<LTVFMMVMVIGNLVVLNLFLALLLSSFS-A997
SCN2AVFRVLCGE-WIETMWDCMEV-----AGQTM>C<LTVFMMVMVIGNLVVLNLFLALLLSSFS-S988
SCN3AVFRVLCGE-WIETMWDCMEV-----AGQTM>C<LIVFMLVMVIGNLVVLNLFLALLLSSFS-S989
SCN4AVFRILCGE-WIETMWDCMEV-----AGQAM>C<LTVFLMVMVIGNLVVLNLFLALLLSSFS-A807
SCN5AIFRILCGE-WIETMWDCMEV-----SGQSL>C<LLVFLLVMVIGNLVVLNLFLALLLSSFS-A944
SCN7AVFRILCGE-WVETLWDCMEV-----AGQSW>C<IPFYLMVILIGNLLVLYLFLA-LVSSFS-S733
SCN8AVFRVLCGE-WIETMWDCMEV-----AGQAM>C<LIVFMMVMVIGNLVVLNLFLALLLSSFS-A982
SCN9AVFRVLCGE-WIETMWDCMEV-----AGQAM>C<LIVYMMVMVIGNLVVLNLFLALLLSSFS-S962
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 729 for CACNA1C.