Paralogue Annotation for CACNA1C residue 703

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 703
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 703

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL708PNight blindness, congenital stationary 2High9 24163243

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.



CACNA1C---------MQTRRSTFDNFPQSLLTVFQI>L<TGEDWNSVMYDGIMAYGGPSFPGMLVCIYF733
CACNA1A---------G-TPPTNFDTFPAAIMTVFQI>L<TGEDWNEVMYDGIKSQGGV-QGGMVFSIYF694
CACNA1B---------E-TPTTNFDTFPAAILTVFQI>L<TGEDWNAVMYHGIESQGGV-SKGMFSSFYF690
CACNA1D---------TQTKRSTFDNFPQALLTVFQI>L<TGEDWNAVMYDGIMAYGGPSSSGMIVCIYF752
CACNA1E---------G-TPSANFDTFPAAIMTVFQI>L<TGEDWNEVMYNGIRSQGGV-SSGMWSAIYF683
CACNA1F---------THTKRSTFDTFPQALLTVFQI>L<TGEDWNVVMYDGIMAYGGPFFPGMLVCIYF738
CACNA1G-----DG-DTLPDRKNFDSLLWAIVTVFQI>L<TQEDWNKVLYNGMAS-T-S----SWAALYF944
CACNA1H-----TG-DTVPDRKNFDSLLWAIVTVFQI>L<TQEDWNVVLYNGMAS-T-S----SWAALYF995
CACNA1I-----TG-DTVPDRKNFDSLLWAIVTVFQI>L<TQEDWNVVLYNGMAS-T-S----PWASLYF842
CACNA1S---------TEVRRSNFDNFPQALISVFQV>L<TGEDWTSMMYNGIMAYGGPSYPGMLVCIYF641
SCN10A---I-SAPHEDWPRWHMHDFFHSFLIVFRI>L<CGE-WIENMWACMEV-----GQKSICLILF870
SCN11ALCNPTGPTVSCLRHWHMGDFWHSFLVVFRI>L<CGE-WIENMWECMQEAN---ASSSLCVIVF791
SCN1A---I-AS-DCQLPRWHMNDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQAMCLTVF972
SCN2A---I-SN-DCELPRWHMHDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQTMCLTVF963
SCN3A---I-ND-DCTLPRWHMNDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQTMCLIVF964
SCN4A---I-AL-DCNLPRWHMHDFFHSFLIVFRI>L<CGE-WIETMWDCMEV-----AGQAMCLTVF782
SCN5A---D-SG---LLPRWHMMDFFHAFLIIFRI>L<CGE-WIETMWDCMEV-----SGQSLCLLVF919
SCN7A---I-DK-DCQLPRWHMHDFFHSFLNVFRI>L<CGE-WVETLWDCMEV-----AGQSWCIPFY709
SCN8A---I-NQ-DCELPRWHMHDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQAMCLIVF957
SCN9A---I-ND-DCTLPRWHMNDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQAMCLIVY937
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 703 for CACNA1C.