Paralogue Annotation for CACNA1C residue 699

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 699
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 699

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV944EMyoclonic epilepsy of infancyHigh9 17347258, 22409937
SCN1AV944AMyoclonic epilepsy of infancyHigh9 14738421, 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.



CACNA1CE------------MQTRRSTFDNFPQSLLT>V<FQILTGEDWNSVMYDGIMAYGGPSFPGMLV729
CACNA1AE------------G-TPPTNFDTFPAAIMT>V<FQILTGEDWNEVMYDGIKSQGGV-QGGMVF690
CACNA1BD------------E-TPTTNFDTFPAAILT>V<FQILTGEDWNAVMYHGIESQGGV-SKGMFS686
CACNA1DE------------TQTKRSTFDNFPQALLT>V<FQILTGEDWNAVMYDGIMAYGGPSSSGMIV748
CACNA1ED------------G-TPSANFDTFPAAIMT>V<FQILTGEDWNEVMYNGIRSQGGV-SSGMWS679
CACNA1FQ------------THTKRSTFDTFPQALLT>V<FQILTGEDWNVVMYDGIMAYGGPFFPGMLV734
CACNA1G---------DG-DTLPDRKNFDSLLWAIVT>V<FQILTQEDWNKVLYNGMAS-T-S----SWA940
CACNA1HD--------TG-DTVPDRKNFDSLLWAIVT>V<FQILTQEDWNVVLYNGMAS-T-S----SWA991
CACNA1ID--------TG-DTVPDRKNFDSLLWAIVT>V<FQILTQEDWNVVLYNGMAS-T-S----PWA838
CACNA1SD------------TEVRRSNFDNFPQALIS>V<FQVLTGEDWTSMMYNGIMAYGGPSYPGMLV637
SCN10ARKN----I-SAPHEDWPRWHMHDFFHSFLI>V<FRILCGE-WIENMWACMEV-----GQKSIC866
SCN11AKSPKLCNPTGPTVSCLRHWHMGDFWHSFLV>V<FRILCGE-WIENMWECMQEAN---ASSSLC787
SCN1AVCK----I-AS-DCQLPRWHMNDFFHSFLI>V<FRVLCGE-WIETMWDCMEV-----AGQAMC968
SCN2AVCK----I-SN-DCELPRWHMHDFFHSFLI>V<FRVLCGE-WIETMWDCMEV-----AGQTMC959
SCN3AVCK----I-ND-DCTLPRWHMNDFFHSFLI>V<FRVLCGE-WIETMWDCMEV-----AGQTMC960
SCN4AVCK----I-AL-DCNLPRWHMHDFFHSFLI>V<FRILCGE-WIETMWDCMEV-----AGQAMC778
SCN5ARDS----D-SG---LLPRWHMMDFFHAFLI>I<FRILCGE-WIETMWDCMEV-----SGQSLC915
SCN7AVCH----I-DK-DCQLPRWHMHDFFHSFLN>V<FRILCGE-WVETLWDCMEV-----AGQSWC705
SCN8AVCK----I-NQ-DCELPRWHMHDFFHSFLI>V<FRVLCGE-WIETMWDCMEV-----AGQAMC953
SCN9AVCK----I-ND-DCTLPRWHMNDFFHSFLI>V<FRVLCGE-WIETMWDCMEV-----AGQAMC933
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 699 for CACNA1C.