Paralogue Annotation for CACNA1C residue 760

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 760
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 760

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD998GDravet syndromeMedium5 18930999

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.



CACNA1CCIYFIILFICGNYILLNVFLAIAVDNLADA>E<SLTSAQKEEEEE-KERKK-LART---AS--783
CACNA1ASIYFIVLTLFGNYTLLNVFLAIAVDNLANA>Q<ELTKDEQEEEEA-ANQKL-ALQKAKEVAEV749
CACNA1BSFYFIVLTLFGNYTLLNVFLAIAVDNLANA>Q<ELTKDEEEMEEA-ANQKL-ALQKAKEVAEV745
CACNA1DCIYFIILFICGNYILLNVFLAIAVDNLADA>E<SLNTAQKEEAEE-KERKK-IARK---ES--802
CACNA1EAIYFIVLTLFGNYTLLNVFLAIAVDNLANA>Q<ELTKDEQEEEEA-FNQKH-ALQKAKEVSPM738
CACNA1FCIYFIILFICGNYILLNVFLAIAVDNLASG>D<A-GTAKDKGGEK-SNEKDLPQEN---EG--788
CACNA1GALYFIALMTFGNYVLFNLLVAILVEGFQ-A>E<EISKREDASGQL-SCIQL-PVDSQGGDANK998
CACNA1HALYFVALMTFGNYVLFNLLVAILVEGFQ-A>E<GDANRSDTDEDKTSVHFEEDFHKL------1045
CACNA1ISLYFVALMTFGNYVLFNLLVAILVEGFQAE>G<DAN-RSYSDEDQSSSNIE-EFDKLQE----893
CACNA1SCIYFIILFVCGNYILLNVFLAIAVDNLAEA>E<SLTSAQKAKAEE-KKRRK-MSKGLPDKS--694
SCN10ALILFLTVMVLGNLVVLNLFIALLLNSFS-A>D<NLTAP-EDDGEV-NNLQV-ALARIQV---F920
SCN11AVIVFILITVIGKLVVLNLFIALLLNSFS-N>E<ERNGNLEGEARK-TKVQL-ALDRFRRAFCF845
SCN1ALTVFMMVMVIGNLVVLNLFLALLLSSFS-A>D<NLAAT-DDDNEM-NNLQI-AVDRMHKGVAY1025
SCN2ALTVFMMVMVIGNLVVLNLFLALLLSSFS-S>D<NLAAT-DDDNEM-NNLQI-AVGRMQKGIDF1016
SCN3ALIVFMLVMVIGNLVVLNLFLALLLSSFS-S>D<NLAAT-DDDNEM-NNLQI-AVGRMQKGIDY1017
SCN4ALTVFLMVMVIGNLVVLNLFLALLLSSFS-A>D<SLAAS-DEDGEM-NNLQI-AIGRIKLGIGF835
SCN5ALLVFLLVMVIGNLVVLNLFLALLLSSFS-A>D<NLTAP-DEDREM-NNLQL-ALARIQRGLRF972
SCN7AIPFYLMVILIGNLLVLYLFLA-LVSSFS-S>C<KDVTA-EENNEA-KNLQL-AVARIKKGINY761
SCN8ALIVFMMVMVIGNLVVLNLFLALLLSSFS-A>D<NLAAT-DDDGEM-NNLQI-SVIRIKKGVAW1010
SCN9ALIVYMMVMVIGNLVVLNLFLALLLSSFS-S>D<NLTAI-EEDPDA-NNLQI-AVTRIKKGINY990
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 760 for CACNA1C.