Paralogue Annotation for CACNA1C residue 695

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 695
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 695

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS940FMyoclonic epilepsy of infancyHigh9 23195492

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.



CACNA1CNFD-E------------MQTRRSTFDNFPQ>S<LLTVFQILTGEDWNSVMYDGIMAYGGPSFP725
CACNA1ANFD-E------------G-TPPTNFDTFPA>A<IMTVFQILTGEDWNEVMYDGIKSQGGV-QG686
CACNA1BNFQ-D------------E-TPTTNFDTFPA>A<ILTVFQILTGEDWNAVMYHGIESQGGV-SK682
CACNA1DNFD-E------------TQTKRSTFDNFPQ>A<LLTVFQILTGEDWNAVMYDGIMAYGGPSSS744
CACNA1ENFN-D------------G-TPSANFDTFPA>A<IMTVFQILTGEDWNEVMYNGIRSQGGV-SS675
CACNA1FNFD-Q------------THTKRSTFDTFPQ>A<LLTVFQILTGEDWNVVMYDGIMAYGGPFFP730
CACNA1GASER---------DG-DTLPDRKNFDSLLW>A<IVTVFQILTQEDWNKVLYNGMAS-T-S---937
CACNA1HSLKTD--------TG-DTVPDRKNFDSLLW>A<IVTVFQILTQEDWNVVLYNGMAS-T-S---988
CACNA1ISLRTD--------TG-DTVPDRKNFDSLLW>A<IVTVFQILTQEDWNVVLYNGMAS-T-S---835
CACNA1SDFE-D------------TEVRRSNFDNFPQ>A<LISVFQVLTGEDWTSMMYNGIMAYGGPSYP633
SCN10ARNN-RKN----I-SAPHEDWPRWHMHDFFH>S<FLIVFRILCGE-WIENMWACMEV-----GQ862
SCN11ANSQ-KSPKLCNPTGPTVSCLRHWHMGDFWH>S<FLVVFRILCGE-WIENMWECMQEAN---AS783
SCN1AKDC-VCK----I-AS-DCQLPRWHMNDFFH>S<FLIVFRVLCGE-WIETMWDCMEV-----AG964
SCN2AKEC-VCK----I-SN-DCELPRWHMHDFFH>S<FLIVFRVLCGE-WIETMWDCMEV-----AG955
SCN3AKEC-VCK----I-ND-DCTLPRWHMNDFFH>S<FLIVFRVLCGE-WIETMWDCMEV-----AG956
SCN4AKEC-VCK----I-AL-DCNLPRWHMHDFFH>S<FLIVFRILCGE-WIETMWDCMEV-----AG774
SCN5ASEL-RDS----D-SG---LLPRWHMMDFFH>A<FLIIFRILCGE-WIETMWDCMEV-----SG911
SCN7AEEF-VCH----I-DK-DCQLPRWHMHDFFH>S<FLNVFRILCGE-WVETLWDCMEV-----AG701
SCN8AKEC-VCK----I-NQ-DCELPRWHMHDFFH>S<FLIVFRVLCGE-WIETMWDCMEV-----AG949
SCN9AKEC-VCK----I-ND-DCTLPRWHMNDFFH>S<FLIVFRVLCGE-WIETMWDCMEV-----AG929
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 695 for CACNA1C.