Paralogue Annotation for CACNA1C residue 668

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 668
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 668

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AV872GErythermalgia, primaryMedium9 19162012
SCN4AV717AMyotonia, non-dystrophicMedium9 23771340
SCN1AV907FFocal epilepsyMedium9 27029629

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.



CACNA1CSNLVASLLNSVRSIASLLLLLFLFIIIFSL>L<GMQLFGGKFNFD-E------------MQTR685
CACNA1ARNLVVSLLNSMKSIISLLFLLFLFIVVFAL>L<GMQLFGGQFNFD-E------------G-TP647
CACNA1BRNLVVSLLNSMKSIISLLFLLFLFIVVFAL>L<GMQLFGGQFNFQ-D------------E-TP643
CACNA1DSNLVASLLNSMKSIASLLLLLFLFIIIFSL>L<GMQLFGGKFNFD-E------------TQTK704
CACNA1ERNLVVSLMSSMKSIISLLFLLFLFIVVFAL>L<GMQLFGGRFNFN-D------------G-TP636
CACNA1FSNLVASLLNSMKSIASLLLLLFLFIIIFSL>L<GMQLFGGKFNFD-Q------------THTK690
CACNA1GQRQLVVLMKTMDNVATFCMLLMLFIFIFSI>L<GMHLFGCKFASER---------DG-DTLPD902
CACNA1HRRQLVVLVKTMDNVATFCTLLMLFIFIFSI>L<GMHLFGCKFSLKTD--------TG-DTVPD953
CACNA1IRRQLVVLMKTMDNVATFCMLLMLFIFIFSI>L<GMHIFGCKFSLRTD--------TG-DTVPD800
CACNA1SSNLVASLLNSIRSIASLLLLLFLFIVIFAL>L<GMQLFGGRYDFE-D------------TEVR593
SCN10ANTLIKIIGNSVGALGNLTIILAIIVFVFAL>V<GKQLLGENYRNN-RKN----I-SAPHEDWP828
SCN11ANTLIKIIGNSVGALGSLTVVLVIVIFIFSV>V<GMQLFGRSFNSQ-KSPKLCNPTGPTVSCLR747
SCN1ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKDC-VCK----I-AS-DCQLP930
SCN2ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-SN-DCELP921
SCN3ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-ND-DCTLP922
SCN4ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-AL-DCNLP740
SCN5ANTLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKNYSEL-RDS----D-SG---LLP877
SCN7AQILMWSLSNSWVALKDLVLLLFTFIFFSAA>F<GMKLFGKNYEEF-VCH----I-DK-DCQLP667
SCN8ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-NQ-DCELP915
SCN9ANMLIKIIGNSVGALGNLTLVLAIIVFIFAV>V<GMQLFGKSYKEC-VCK----I-ND-DCTLP895
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 668 for CACNA1C.