Paralogue Annotation for CACNA1C residue 756

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 756
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 756

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF995LDravet syndromeMedium9 24168886

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.



CACNA1CGMLVCIYFIILFICGNYILLNVFLAIAVDN>L<ADAESLTSAQKEEEEE-KERKK-LART---781
CACNA1AGMVFSIYFIVLTLFGNYTLLNVFLAIAVDN>L<ANAQELTKDEQEEEEA-ANQKL-ALQKAKE745
CACNA1BGMFSSFYFIVLTLFGNYTLLNVFLAIAVDN>L<ANAQELTKDEEEMEEA-ANQKL-ALQKAKE741
CACNA1DGMIVCIYFIILFICGNYILLNVFLAIAVDN>L<ADAESLNTAQKEEAEE-KERKK-IARK---800
CACNA1EGMWSAIYFIVLTLFGNYTLLNVFLAIAVDN>L<ANAQELTKDEQEEEEA-FNQKH-ALQKAKE734
CACNA1FGMLVCIYFIILFICGNYILLNVFLAIAVDN>L<ASGDA-GTAKDKGGEK-SNEKDLPQEN---786
CACNA1G-SWAALYFIALMTFGNYVLFNLLVAILVEG>F<Q-AEEISKREDASGQL-SCIQL-PVDSQGG994
CACNA1H-SWAALYFVALMTFGNYVLFNLLVAILVEG>F<Q-AEGDANRSDTDEDKTSVHFEEDFHKL--1045
CACNA1I-PWASLYFVALMTFGNYVLFNLLVAILVEG>F<QAEGDAN-RSYSDEDQSSSNIE-EFDKLQE893
CACNA1SGMLVCIYFIILFVCGNYILLNVFLAIAVDN>L<AEAESLTSAQKAKAEE-KKRRK-MSKGLPD692
SCN10AKSICLILFLTVMVLGNLVVLNLFIALLLNS>F<S-ADNLTAP-EDDGEV-NNLQV-ALARIQV919
SCN11ASSLCVIVFILITVIGKLVVLNLFIALLLNS>F<S-NEERNGNLEGEARK-TKVQL-ALDRFRR841
SCN1AQAMCLTVFMMVMVIGNLVVLNLFLALLLSS>F<S-ADNLAAT-DDDNEM-NNLQI-AVDRMHK1021
SCN2AQTMCLTVFMMVMVIGNLVVLNLFLALLLSS>F<S-SDNLAAT-DDDNEM-NNLQI-AVGRMQK1012
SCN3AQTMCLIVFMLVMVIGNLVVLNLFLALLLSS>F<S-SDNLAAT-DDDNEM-NNLQI-AVGRMQK1013
SCN4AQAMCLTVFLMVMVIGNLVVLNLFLALLLSS>F<S-ADSLAAS-DEDGEM-NNLQI-AIGRIKL831
SCN5AQSLCLLVFLLVMVIGNLVVLNLFLALLLSS>F<S-ADNLTAP-DEDREM-NNLQL-ALARIQR968
SCN7AQSWCIPFYLMVILIGNLLVLYLFLA-LVSS>F<S-SCKDVTA-EENNEA-KNLQL-AVARIKK757
SCN8AQAMCLIVFMMVMVIGNLVVLNLFLALLLSS>F<S-ADNLAAT-DDDGEM-NNLQI-SVIRIKK1006
SCN9AQAMCLIVYMMVMVIGNLVVLNLFLALLLSS>F<S-SDNLTAI-EEDPDA-NNLQI-AVTRIKK986
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 756 for CACNA1C.