Paralogue Annotation for CACNA1C residue 1000

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1000
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1000

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1318RMyoclonic epilepsy of infancyHigh9 22147323

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.



CACNA1CSVSLISF----G----IQSSAINVVKILRV>L<RVLRPLRAINRAKGLKHVVQCVFVAIRTIG1030
CACNA1ASGALVAFAFTGN----SKGKDINTIKSLRV>L<RVLRPLKTIKRLPKLKAVFDCVVNSLKNVF1378
CACNA1BSGALVAFAFS-G----SKGKDINTIKSLRV>L<RVLRPLKTIKRLPKLKAVFDCVVNSLKNVL1284
CACNA1DGVSLVSF----G----IQSSAISVVKILRV>L<RVLRPLRAINRAKGLKHVVQCVFVAIRTIG1036
CACNA1EVGALVAFALANA-LGTNKGRDIKTIKSLRV>L<RVLRPLKTIKRLPKLKAVFDCVVTSLKNVF1290
CACNA1FSVSLISF----G----IHSSAISVVKILRV>L<RVLRPLRAINRAKGLKHVVQCVFVAIRTIG1001
CACNA1GLISVIDILVS-MVSD-SGTKILGMLRVLRL>L<RTLRPLRVISRAQGLKLVVETLMSSLKPIG1413
CACNA1HLVSLVDIVVA-MASA-GGAKILGVLRVLRL>L<RTLRPLRVISRAPGLKLVVETLISSLRPIG1431
CACNA1IFVSIIDIVVS-LASA-GGAKILGVLRVLRL>L<RTLRPLRVISRAPGLKLVVETLISSLKPIG1307
CACNA1SAVSLISM----G----LESSAISVVKILRV>L<RVLRPLRAINRAKGLKHVVQCMFVAISTIG929
SCN10ANISLISLTAK-I----LEYSEVAPIKALRT>L<RALRPLRALSRFEGMRVVVDALVGAIPSIM1282
SCN11AIVSVTTLI---------N---LMELKSFRT>L<RALRPLRALSQFEGMKVVVNALIGAIPAIL1179
SCN1ADVSLVSLTAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALLGAIPSIM1348
SCN2ADVSLVSLTAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALLGAIPSIM1338
SCN3ADVSLVSLVAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALVGAIPSIM1336
SCN4ADVSIISLVAN-W----LGYSELGPIKSLRT>L<RALRPLRALSRFEGMRVVVNALLGAIPSIM1161
SCN5ADVSLVSLVAN-T----LGFAEMGPIKSLRT>L<RALRPLRALSRFEGMRVVVNALVGAIPSIM1335
SCN7AIVFCLSLIGK-T----RE--E---LKPLIS>M<KFLRPLRVLSQFERMKVVVRALIKTTLPTL1059
SCN8AAVSLVSLIAN-A----LGYSELGAIKSLRT>L<RALRPLRALSRFEGMRVVVNALVGAIPSIM1328
SCN9ADVSLVTLVAN-T----LGYSDLGPIKSLRT>L<RALRPLRALSRFEGMRVVVNALIGAIPSIM1311
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1000 for CACNA1C.