Paralogue Annotation for CACNA1C residue 715

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 715
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 715

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC959RMyoclonic epilepsy of infancyMedium9 12754708, 17054685
SCN1AC959YDravet syndromeMedium9 24168886, 23934111
CACNA1HG983SIdiopathic epilepsy, generalisedHigh9 17696120

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.



CACNA1CRRSTFDNFPQSLLTVFQILTGEDWNSVMYD>G<IMAYGGPSFPGMLVCIYFIILFICGNYILL745
CACNA1APPTNFDTFPAAIMTVFQILTGEDWNEVMYD>G<IKSQGGV-QGGMVFSIYFIVLTLFGNYTLL706
CACNA1BPTTNFDTFPAAILTVFQILTGEDWNAVMYH>G<IESQGGV-SKGMFSSFYFIVLTLFGNYTLL702
CACNA1DKRSTFDNFPQALLTVFQILTGEDWNAVMYD>G<IMAYGGPSSSGMIVCIYFIILFICGNYILL764
CACNA1EPSANFDTFPAAIMTVFQILTGEDWNEVMYN>G<IRSQGGV-SSGMWSAIYFIVLTLFGNYTLL695
CACNA1FKRSTFDTFPQALLTVFQILTGEDWNVVMYD>G<IMAYGGPFFPGMLVCIYFIILFICGNYILL750
CACNA1GDRKNFDSLLWAIVTVFQILTQEDWNKVLYN>G<MAS-T-S----SWAALYFIALMTFGNYVLF956
CACNA1HDRKNFDSLLWAIVTVFQILTQEDWNVVLYN>G<MAS-T-S----SWAALYFVALMTFGNYVLF1007
CACNA1IDRKNFDSLLWAIVTVFQILTQEDWNVVLYN>G<MAS-T-S----PWASLYFVALMTFGNYVLF854
CACNA1SRRSNFDNFPQALISVFQVLTGEDWTSMMYN>G<IMAYGGPSYPGMLVCIYFIILFVCGNYILL653
SCN10APRWHMHDFFHSFLIVFRILCGE-WIENMWA>C<MEV-----GQKSICLILFLTVMVLGNLVVL882
SCN11ARHWHMGDFWHSFLVVFRILCGE-WIENMWE>C<MQEAN---ASSSLCVIVFILITVIGKLVVL803
SCN1APRWHMNDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQAMCLTVFMMVMVIGNLVVL984
SCN2APRWHMHDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQTMCLTVFMMVMVIGNLVVL975
SCN3APRWHMNDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQTMCLIVFMLVMVIGNLVVL976
SCN4APRWHMHDFFHSFLIVFRILCGE-WIETMWD>C<MEV-----AGQAMCLTVFLMVMVIGNLVVL794
SCN5APRWHMMDFFHAFLIIFRILCGE-WIETMWD>C<MEV-----SGQSLCLLVFLLVMVIGNLVVL931
SCN7APRWHMHDFFHSFLNVFRILCGE-WVETLWD>C<MEV-----AGQSWCIPFYLMVILIGNLLVL721
SCN8APRWHMHDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQAMCLIVFMMVMVIGNLVVL969
SCN9APRWHMNDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQAMCLIVYMMVMVIGNLVVL949
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 715 for CACNA1C.