Paralogue Annotation for CACNA1C residue 713

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 713
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 713

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW957LMyoclonic epilepsy of infancyMedium9 17561957
SCN1AW957RMyoclonic epilepsy of infancyMedium9 21425109

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.



CACNA1CQTRRSTFDNFPQSLLTVFQILTGEDWNSVM>Y<DGIMAYGGPSFPGMLVCIYFIILFICGNYI743
CACNA1A-TPPTNFDTFPAAIMTVFQILTGEDWNEVM>Y<DGIKSQGGV-QGGMVFSIYFIVLTLFGNYT704
CACNA1B-TPTTNFDTFPAAILTVFQILTGEDWNAVM>Y<HGIESQGGV-SKGMFSSFYFIVLTLFGNYT700
CACNA1DQTKRSTFDNFPQALLTVFQILTGEDWNAVM>Y<DGIMAYGGPSSSGMIVCIYFIILFICGNYI762
CACNA1E-TPSANFDTFPAAIMTVFQILTGEDWNEVM>Y<NGIRSQGGV-SSGMWSAIYFIVLTLFGNYT693
CACNA1FHTKRSTFDTFPQALLTVFQILTGEDWNVVM>Y<DGIMAYGGPFFPGMLVCIYFIILFICGNYI748
CACNA1GLPDRKNFDSLLWAIVTVFQILTQEDWNKVL>Y<NGMAS-T-S----SWAALYFIALMTFGNYV954
CACNA1HVPDRKNFDSLLWAIVTVFQILTQEDWNVVL>Y<NGMAS-T-S----SWAALYFVALMTFGNYV1005
CACNA1IVPDRKNFDSLLWAIVTVFQILTQEDWNVVL>Y<NGMAS-T-S----PWASLYFVALMTFGNYV852
CACNA1SEVRRSNFDNFPQALISVFQVLTGEDWTSMM>Y<NGIMAYGGPSYPGMLVCIYFIILFVCGNYI651
SCN10ADWPRWHMHDFFHSFLIVFRILCGE-WIENM>W<ACMEV-----GQKSICLILFLTVMVLGNLV880
SCN11ACLRHWHMGDFWHSFLVVFRILCGE-WIENM>W<ECMQEAN---ASSSLCVIVFILITVIGKLV801
SCN1AQLPRWHMNDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQAMCLTVFMMVMVIGNLV982
SCN2AELPRWHMHDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQTMCLTVFMMVMVIGNLV973
SCN3ATLPRWHMNDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQTMCLIVFMLVMVIGNLV974
SCN4ANLPRWHMHDFFHSFLIVFRILCGE-WIETM>W<DCMEV-----AGQAMCLTVFLMVMVIGNLV792
SCN5ALLPRWHMMDFFHAFLIIFRILCGE-WIETM>W<DCMEV-----SGQSLCLLVFLLVMVIGNLV929
SCN7AQLPRWHMHDFFHSFLNVFRILCGE-WVETL>W<DCMEV-----AGQSWCIPFYLMVILIGNLL719
SCN8AELPRWHMHDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQAMCLIVFMMVMVIGNLV967
SCN9ATLPRWHMNDFFHSFLIVFRVLCGE-WIETM>W<DCMEV-----AGQAMCLIVYMMVMVIGNLV947
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 713 for CACNA1C.