Paralogue Annotation for CACNA1C residue 753

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 753
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 753

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AV714AHemiplegic migraine and episodic ataxia 2High9 8898206, 10024348, 9488686
SCN11AL811PCongenital indifference to painMedium9 24036948, 25118027

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.



CACNA1CSFPGMLVCIYFIILFICGNYILLNVFLAIA>V<DNLADAESLTSAQKEEEEE-KERKK-LART781
CACNA1A-QGGMVFSIYFIVLTLFGNYTLLNVFLAIA>V<DNLANAQELTKDEQEEEEA-ANQKL-ALQK742
CACNA1B-SKGMFSSFYFIVLTLFGNYTLLNVFLAIA>V<DNLANAQELTKDEEEMEEA-ANQKL-ALQK738
CACNA1DSSSGMIVCIYFIILFICGNYILLNVFLAIA>V<DNLADAESLNTAQKEEAEE-KERKK-IARK800
CACNA1E-SSGMWSAIYFIVLTLFGNYTLLNVFLAIA>V<DNLANAQELTKDEQEEEEA-FNQKH-ALQK731
CACNA1FFFPGMLVCIYFIILFICGNYILLNVFLAIA>V<DNLASGDA-GTAKDKGGEK-SNEKDLPQEN786
CACNA1G----SWAALYFIALMTFGNYVLFNLLVAIL>V<EGFQ-AEEISKREDASGQL-SCIQL-PVDS991
CACNA1H----SWAALYFVALMTFGNYVLFNLLVAIL>V<EGFQ-AEGDANRSDTDEDKTSVHFEEDFHK1044
CACNA1I----PWASLYFVALMTFGNYVLFNLLVAIL>V<EGFQAEGDAN-RSYSDEDQSSSNIE-EFDK890
CACNA1SSYPGMLVCIYFIILFVCGNYILLNVFLAIA>V<DNLAEAESLTSAQKAKAEE-KKRRK-MSKG689
SCN10A-GQKSICLILFLTVMVLGNLVVLNLFIALL>L<NSFS-ADNLTAP-EDDGEV-NNLQV-ALAR916
SCN11A-ASSSLCVIVFILITVIGKLVVLNLFIALL>L<NSFS-NEERNGNLEGEARK-TKVQL-ALDR838
SCN1A-AGQAMCLTVFMMVMVIGNLVVLNLFLALL>L<SSFS-ADNLAAT-DDDNEM-NNLQI-AVDR1018
SCN2A-AGQTMCLTVFMMVMVIGNLVVLNLFLALL>L<SSFS-SDNLAAT-DDDNEM-NNLQI-AVGR1009
SCN3A-AGQTMCLIVFMLVMVIGNLVVLNLFLALL>L<SSFS-SDNLAAT-DDDNEM-NNLQI-AVGR1010
SCN4A-AGQAMCLTVFLMVMVIGNLVVLNLFLALL>L<SSFS-ADSLAAS-DEDGEM-NNLQI-AIGR828
SCN5A-SGQSLCLLVFLLVMVIGNLVVLNLFLALL>L<SSFS-ADNLTAP-DEDREM-NNLQL-ALAR965
SCN7A-AGQSWCIPFYLMVILIGNLLVLYLFLA-L>V<SSFS-SCKDVTA-EENNEA-KNLQL-AVAR754
SCN8A-AGQAMCLIVFMMVMVIGNLVVLNLFLALL>L<SSFS-ADNLAAT-DDDGEM-NNLQI-SVIR1003
SCN9A-AGQAMCLIVYMMVMVIGNLVVLNLFLALL>L<SSFS-SDNLTAI-EEDPDA-NNLQI-AVTR983
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 753 for CACNA1C.