Paralogue Annotation for CACNA1C residue 692

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 692
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 692

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AF928CEpileptic encephalopathyHigh9 23708187

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.



CACNA1CGKFNFD-E------------MQTRRSTFDN>F<PQSLLTVFQILTGEDWNSVMYDGIMAYGGP722
CACNA1AGQFNFD-E------------G-TPPTNFDT>F<PAAIMTVFQILTGEDWNEVMYDGIKSQGGV684
CACNA1BGQFNFQ-D------------E-TPTTNFDT>F<PAAILTVFQILTGEDWNAVMYHGIESQGGV680
CACNA1DGKFNFD-E------------TQTKRSTFDN>F<PQALLTVFQILTGEDWNAVMYDGIMAYGGP741
CACNA1EGRFNFN-D------------G-TPSANFDT>F<PAAIMTVFQILTGEDWNEVMYNGIRSQGGV673
CACNA1FGKFNFD-Q------------THTKRSTFDT>F<PQALLTVFQILTGEDWNVVMYDGIMAYGGP727
CACNA1GCKFASER---------DG-DTLPDRKNFDS>L<LWAIVTVFQILTQEDWNKVLYNGMAS-T-S937
CACNA1HCKFSLKTD--------TG-DTVPDRKNFDS>L<LWAIVTVFQILTQEDWNVVLYNGMAS-T-S988
CACNA1ICKFSLRTD--------TG-DTVPDRKNFDS>L<LWAIVTVFQILTQEDWNVVLYNGMAS-T-S835
CACNA1SGRYDFE-D------------TEVRRSNFDN>F<PQALISVFQVLTGEDWTSMMYNGIMAYGGP630
SCN10AENYRNN-RKN----I-SAPHEDWPRWHMHD>F<FHSFLIVFRILCGE-WIENMWACMEV----860
SCN11ARSFNSQ-KSPKLCNPTGPTVSCLRHWHMGD>F<WHSFLVVFRILCGE-WIENMWECMQEAN--781
SCN1AKSYKDC-VCK----I-AS-DCQLPRWHMND>F<FHSFLIVFRVLCGE-WIETMWDCMEV----962
SCN2AKSYKEC-VCK----I-SN-DCELPRWHMHD>F<FHSFLIVFRVLCGE-WIETMWDCMEV----953
SCN3AKSYKEC-VCK----I-ND-DCTLPRWHMND>F<FHSFLIVFRVLCGE-WIETMWDCMEV----954
SCN4AKSYKEC-VCK----I-AL-DCNLPRWHMHD>F<FHSFLIVFRILCGE-WIETMWDCMEV----772
SCN5AKNYSEL-RDS----D-SG---LLPRWHMMD>F<FHAFLIIFRILCGE-WIETMWDCMEV----909
SCN7AKNYEEF-VCH----I-DK-DCQLPRWHMHD>F<FHSFLNVFRILCGE-WVETLWDCMEV----699
SCN8AKSYKEC-VCK----I-NQ-DCELPRWHMHD>F<FHSFLIVFRVLCGE-WIETMWDCMEV----947
SCN9AKSYKEC-VCK----I-ND-DCTLPRWHMND>F<FHSFLIVFRVLCGE-WIETMWDCMEV----927
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 692 for CACNA1C.