Paralogue Annotation for CACNA1C residue 697

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 697
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 697

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL942PMyoclonic epilepsy of infancyHigh9 17054684

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.



CACNA1CD-E------------MQTRRSTFDNFPQSL>L<TVFQILTGEDWNSVMYDGIMAYGGPSFPGM727
CACNA1AD-E------------G-TPPTNFDTFPAAI>M<TVFQILTGEDWNEVMYDGIKSQGGV-QGGM688
CACNA1BQ-D------------E-TPTTNFDTFPAAI>L<TVFQILTGEDWNAVMYHGIESQGGV-SKGM684
CACNA1DD-E------------TQTKRSTFDNFPQAL>L<TVFQILTGEDWNAVMYDGIMAYGGPSSSGM746
CACNA1EN-D------------G-TPSANFDTFPAAI>M<TVFQILTGEDWNEVMYNGIRSQGGV-SSGM677
CACNA1FD-Q------------THTKRSTFDTFPQAL>L<TVFQILTGEDWNVVMYDGIMAYGGPFFPGM732
CACNA1GER---------DG-DTLPDRKNFDSLLWAI>V<TVFQILTQEDWNKVLYNGMAS-T-S----S938
CACNA1HKTD--------TG-DTVPDRKNFDSLLWAI>V<TVFQILTQEDWNVVLYNGMAS-T-S----S989
CACNA1IRTD--------TG-DTVPDRKNFDSLLWAI>V<TVFQILTQEDWNVVLYNGMAS-T-S----P836
CACNA1SE-D------------TEVRRSNFDNFPQAL>I<SVFQVLTGEDWTSMMYNGIMAYGGPSYPGM635
SCN10AN-RKN----I-SAPHEDWPRWHMHDFFHSF>L<IVFRILCGE-WIENMWACMEV-----GQKS864
SCN11AQ-KSPKLCNPTGPTVSCLRHWHMGDFWHSF>L<VVFRILCGE-WIENMWECMQEAN---ASSS785
SCN1AC-VCK----I-AS-DCQLPRWHMNDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQA966
SCN2AC-VCK----I-SN-DCELPRWHMHDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQT957
SCN3AC-VCK----I-ND-DCTLPRWHMNDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQT958
SCN4AC-VCK----I-AL-DCNLPRWHMHDFFHSF>L<IVFRILCGE-WIETMWDCMEV-----AGQA776
SCN5AL-RDS----D-SG---LLPRWHMMDFFHAF>L<IIFRILCGE-WIETMWDCMEV-----SGQS913
SCN7AF-VCH----I-DK-DCQLPRWHMHDFFHSF>L<NVFRILCGE-WVETLWDCMEV-----AGQS703
SCN8AC-VCK----I-NQ-DCELPRWHMHDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQA951
SCN9AC-VCK----I-ND-DCTLPRWHMNDFFHSF>L<IVFRVLCGE-WIETMWDCMEV-----AGQA931
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 697 for CACNA1C.