Paralogue Annotation for CACNA1C residue 731

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 731
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 731

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL917RBrugada 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.



CACNA1CQILTGEDWNSVMYDGIMAYGGPSFPGMLVC>I<YFIILFICGNYILLNVFLAIAVDNLADAES761
CACNA1AQILTGEDWNEVMYDGIKSQGGV-QGGMVFS>I<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE722
CACNA1BQILTGEDWNAVMYHGIESQGGV-SKGMFSS>F<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE718
CACNA1DQILTGEDWNAVMYDGIMAYGGPSSSGMIVC>I<YFIILFICGNYILLNVFLAIAVDNLADAES780
CACNA1EQILTGEDWNEVMYNGIRSQGGV-SSGMWSA>I<YFIVLTLFGNYTLLNVFLAIAVDNLANAQE711
CACNA1FQILTGEDWNVVMYDGIMAYGGPFFPGMLVC>I<YFIILFICGNYILLNVFLAIAVDNLASGDA766
CACNA1GQILTQEDWNKVLYNGMAS-T-S----SWAA>L<YFIALMTFGNYVLFNLLVAILVEGFQ-AEE971
CACNA1HQILTQEDWNVVLYNGMAS-T-S----SWAA>L<YFVALMTFGNYVLFNLLVAILVEGFQ-AEG1022
CACNA1IQILTQEDWNVVLYNGMAS-T-S----PWAS>L<YFVALMTFGNYVLFNLLVAILVEGFQAEGD870
CACNA1SQVLTGEDWTSMMYNGIMAYGGPSYPGMLVC>I<YFIILFVCGNYILLNVFLAIAVDNLAEAES669
SCN10ARILCGE-WIENMWACMEV-----GQKSICL>I<LFLTVMVLGNLVVLNLFIALLLNSFS-ADN897
SCN11ARILCGE-WIENMWECMQEAN---ASSSLCV>I<VFILITVIGKLVVLNLFIALLLNSFS-NEE818
SCN1ARVLCGE-WIETMWDCMEV-----AGQAMCL>T<VFMMVMVIGNLVVLNLFLALLLSSFS-ADN999
SCN2ARVLCGE-WIETMWDCMEV-----AGQTMCL>T<VFMMVMVIGNLVVLNLFLALLLSSFS-SDN990
SCN3ARVLCGE-WIETMWDCMEV-----AGQTMCL>I<VFMLVMVIGNLVVLNLFLALLLSSFS-SDN991
SCN4ARILCGE-WIETMWDCMEV-----AGQAMCL>T<VFLMVMVIGNLVVLNLFLALLLSSFS-ADS809
SCN5ARILCGE-WIETMWDCMEV-----SGQSLCL>L<VFLLVMVIGNLVVLNLFLALLLSSFS-ADN946
SCN7ARILCGE-WVETLWDCMEV-----AGQSWCI>P<FYLMVILIGNLLVLYLFLA-LVSSFS-SCK735
SCN8ARVLCGE-WIETMWDCMEV-----AGQAMCL>I<VFMMVMVIGNLVVLNLFLALLLSSFS-ADN984
SCN9ARVLCGE-WIETMWDCMEV-----AGQAMCL>I<VYMMVMVIGNLVVLNLFLALLLSSFS-SDN964
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 731 for CACNA1C.