Paralogue Annotation for CACNA1C residue 1036

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1036
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1036

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AY1385CHemiplegic migraine, coma, cerebellar atrophyMedium9 11061267, 22082423
SCN1AC1354YDravet syndromeMedium9 25459968

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.



CACNA1CLRAINRAKGLKHVVQCVFVAIRTIGNIVIV>T<TLLQFMFACIGVQLFKGKLYTCSDSSKQTE1066
CACNA1ALKTIKRLPKLKAVFDCVVNSLKNVFNILIV>Y<MLFMFIFAVVAVQLFKGKFFHCTDESKEFE1414
CACNA1BLKTIKRLPKLKAVFDCVVNSLKNVLNILIV>Y<MLFMFIFAVIAVQLFKGKFFYCTDESKELE1320
CACNA1DLRAINRAKGLKHVVQCVFVAIRTIGNIMIV>T<TLLQFMFACIGVQLFKGKFYRCTDEAKSNP1072
CACNA1ELKTIKRLPKLKAVFDCVVTSLKNVFNILIV>Y<KLFMFIFAVIAVQLFKGKFFYCTDSSKDTE1326
CACNA1FLRAINRAKGLKHVVQCVFVAIRTIGNIMIV>T<TLLQFMFACIGVQLFKGKFYTCTDEAKHTP1037
CACNA1GLRVISRAQGLKLVVETLMSSLKPIGNIVVI>C<CAFFIIFGILGVQLFKGKFFVCQGED----1445
CACNA1HLRVISRAPGLKLVVETLISSLRPIGNIVLI>C<CAFFIIFGILGVQLFKGKFYYCEGPD----1463
CACNA1ILRVISRAPGLKLVVETLISSLKPIGNIVLI>C<CAFFIIFGILGVQLFKGKFYHCLGVD----1339
CACNA1SLRAINRAKGLKHVVQCMFVAISTIGNIVLV>T<TLLQFMFACIGVQLFKGKFFRCTDLSKMTE965
SCN10ALRALSRFEGMRVVVDALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFWRCINYTDGEF1318
SCN11ALRALSQFEGMKVVVNALIGAIPAILNVLLV>C<LIFWLVFCILGVYFFSGKFGKCINGTDSVI1215
SCN1ALRALSRFEGMRVVVNALLGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYHCINTTTGDR1384
SCN2ALRALSRFEGMRVVVNALLGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYHCINYTTGEM1374
SCN3ALRALSRFEGMRVVVNALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYHCVNMTTGNM1372
SCN4ALRALSRFEGMRVVVNALLGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYYCINTTTSER1197
SCN5ALRALSRFEGMRVVVNALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFGRCINQTEGDL1371
SCN7ALRVLSQFERMKVVVRALIKTTLPTLNVFLV>C<LMIWLIFSIMGVDLFAGRFYECIDPTSGER1095
SCN8ALRALSRFEGMRVVVNALVGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKYHYCFNETSEIR1364
SCN9ALRALSRFEGMRVVVNALIGAIPSIMNVLLV>C<LIFWLIFSIMGVNLFAGKFYECINTTDGSR1347
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1036 for CACNA1C.