Paralogue Annotation for CACNA1C residue 1037

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1037
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1037

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1355PMyoclonic epilepsy of infancyMedium9 14738421, 23195492
SCN5AL1342FCardiomyopathy, right ventricularMedium9 24981977

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.



CACNA1CRAINRAKGLKHVVQCVFVAIRTIGNIVIVT>T<LLQFMFACIGVQLFKGKLYTCSDSSKQTEA1067
CACNA1AKTIKRLPKLKAVFDCVVNSLKNVFNILIVY>M<LFMFIFAVVAVQLFKGKFFHCTDESKEFEK1415
CACNA1BKTIKRLPKLKAVFDCVVNSLKNVLNILIVY>M<LFMFIFAVIAVQLFKGKFFYCTDESKELER1321
CACNA1DRAINRAKGLKHVVQCVFVAIRTIGNIMIVT>T<LLQFMFACIGVQLFKGKFYRCTDEAKSNPE1073
CACNA1EKTIKRLPKLKAVFDCVVTSLKNVFNILIVY>K<LFMFIFAVIAVQLFKGKFFYCTDSSKDTEK1327
CACNA1FRAINRAKGLKHVVQCVFVAIRTIGNIMIVT>T<LLQFMFACIGVQLFKGKFYTCTDEAKHTPQ1038
CACNA1GRVISRAQGLKLVVETLMSSLKPIGNIVVIC>C<AFFIIFGILGVQLFKGKFFVCQGED-----1445
CACNA1HRVISRAPGLKLVVETLISSLRPIGNIVLIC>C<AFFIIFGILGVQLFKGKFYYCEGPD-----1463
CACNA1IRVISRAPGLKLVVETLISSLKPIGNIVLIC>C<AFFIIFGILGVQLFKGKFYHCLGVD-----1339
CACNA1SRAINRAKGLKHVVQCMFVAISTIGNIVLVT>T<LLQFMFACIGVQLFKGKFFRCTDLSKMTEE966
SCN10ARALSRFEGMRVVVDALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFWRCINYTDGEF-1318
SCN11ARALSQFEGMKVVVNALIGAIPAILNVLLVC>L<IFWLVFCILGVYFFSGKFGKCINGTDSVI-1215
SCN1ARALSRFEGMRVVVNALLGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYHCINTTTGDR-1384
SCN2ARALSRFEGMRVVVNALLGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYHCINYTTGEM-1374
SCN3ARALSRFEGMRVVVNALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYHCVNMTTGNM-1372
SCN4ARALSRFEGMRVVVNALLGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYYCINTTTSER-1197
SCN5ARALSRFEGMRVVVNALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFGRCINQTEGDL-1371
SCN7ARVLSQFERMKVVVRALIKTTLPTLNVFLVC>L<MIWLIFSIMGVDLFAGRFYECIDPTSGER-1095
SCN8ARALSRFEGMRVVVNALVGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKYHYCFNETSEIR-1364
SCN9ARALSRFEGMRVVVNALIGAIPSIMNVLLVC>L<IFWLIFSIMGVNLFAGKFYECINTTDGSR-1347
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1037 for CACNA1C.