Paralogue Annotation for CACNA1C residue 691

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 691
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 691

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AD936VDravet syndromeMedium9 23485646

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.



CACNA1CGGKFNFD-E------------MQTRRSTFD>N<FPQSLLTVFQILTGEDWNSVMYDGIMAYGG721
CACNA1AGGQFNFD-E------------G-TPPTNFD>T<FPAAIMTVFQILTGEDWNEVMYDGIKSQGG683
CACNA1BGGQFNFQ-D------------E-TPTTNFD>T<FPAAILTVFQILTGEDWNAVMYHGIESQGG679
CACNA1DGGKFNFD-E------------TQTKRSTFD>N<FPQALLTVFQILTGEDWNAVMYDGIMAYGG740
CACNA1EGGRFNFN-D------------G-TPSANFD>T<FPAAIMTVFQILTGEDWNEVMYNGIRSQGG672
CACNA1FGGKFNFD-Q------------THTKRSTFD>T<FPQALLTVFQILTGEDWNVVMYDGIMAYGG726
CACNA1GGCKFASER---------DG-DTLPDRKNFD>S<LLWAIVTVFQILTQEDWNKVLYNGMAS-T-936
CACNA1HGCKFSLKTD--------TG-DTVPDRKNFD>S<LLWAIVTVFQILTQEDWNVVLYNGMAS-T-987
CACNA1IGCKFSLRTD--------TG-DTVPDRKNFD>S<LLWAIVTVFQILTQEDWNVVLYNGMAS-T-834
CACNA1SGGRYDFE-D------------TEVRRSNFD>N<FPQALISVFQVLTGEDWTSMMYNGIMAYGG629
SCN10AGENYRNN-RKN----I-SAPHEDWPRWHMH>D<FFHSFLIVFRILCGE-WIENMWACMEV---860
SCN11AGRSFNSQ-KSPKLCNPTGPTVSCLRHWHMG>D<FWHSFLVVFRILCGE-WIENMWECMQEAN-781
SCN1AGKSYKDC-VCK----I-AS-DCQLPRWHMN>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---962
SCN2AGKSYKEC-VCK----I-SN-DCELPRWHMH>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---953
SCN3AGKSYKEC-VCK----I-ND-DCTLPRWHMN>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---954
SCN4AGKSYKEC-VCK----I-AL-DCNLPRWHMH>D<FFHSFLIVFRILCGE-WIETMWDCMEV---772
SCN5AGKNYSEL-RDS----D-SG---LLPRWHMM>D<FFHAFLIIFRILCGE-WIETMWDCMEV---909
SCN7AGKNYEEF-VCH----I-DK-DCQLPRWHMH>D<FFHSFLNVFRILCGE-WVETLWDCMEV---699
SCN8AGKSYKEC-VCK----I-NQ-DCELPRWHMH>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---947
SCN9AGKSYKEC-VCK----I-ND-DCTLPRWHMN>D<FFHSFLIVFRVLCGE-WIETMWDCMEV---927
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 691 for CACNA1C.