Paralogue Annotation for CACNA1C residue 1035

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1035
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1035

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1340IBrugada syndromeHigh9 20129283, 19648062, 24136861
SCN1AV1353LGeneralized epilepsy with febrile seizures plusHigh9 11254444, 14672992
SCN9AV1316AErythermalgia, primaryHigh9 23383113, 23376079
SCN11AV1184ACold-aggravated peripheral painHigh9 26645915

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.



CACNA1CPLRAINRAKGLKHVVQCVFVAIRTIGNIVI>V<TTLLQFMFACIGVQLFKGKLYTCSDSSKQT1065
CACNA1APLKTIKRLPKLKAVFDCVVNSLKNVFNILI>V<YMLFMFIFAVVAVQLFKGKFFHCTDESKEF1413
CACNA1BPLKTIKRLPKLKAVFDCVVNSLKNVLNILI>V<YMLFMFIFAVIAVQLFKGKFFYCTDESKEL1319
CACNA1DPLRAINRAKGLKHVVQCVFVAIRTIGNIMI>V<TTLLQFMFACIGVQLFKGKFYRCTDEAKSN1071
CACNA1EPLKTIKRLPKLKAVFDCVVTSLKNVFNILI>V<YKLFMFIFAVIAVQLFKGKFFYCTDSSKDT1325
CACNA1FPLRAINRAKGLKHVVQCVFVAIRTIGNIMI>V<TTLLQFMFACIGVQLFKGKFYTCTDEAKHT1036
CACNA1GPLRVISRAQGLKLVVETLMSSLKPIGNIVV>I<CCAFFIIFGILGVQLFKGKFFVCQGED---1445
CACNA1HPLRVISRAPGLKLVVETLISSLRPIGNIVL>I<CCAFFIIFGILGVQLFKGKFYYCEGPD---1463
CACNA1IPLRVISRAPGLKLVVETLISSLKPIGNIVL>I<CCAFFIIFGILGVQLFKGKFYHCLGVD---1339
CACNA1SPLRAINRAKGLKHVVQCMFVAISTIGNIVL>V<TTLLQFMFACIGVQLFKGKFFRCTDLSKMT964
SCN10APLRALSRFEGMRVVVDALVGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFWRCINYTDGE1317
SCN11APLRALSQFEGMKVVVNALIGAIPAILNVLL>V<CLIFWLVFCILGVYFFSGKFGKCINGTDSV1214
SCN1APLRALSRFEGMRVVVNALLGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFYHCINTTTGD1383
SCN2APLRALSRFEGMRVVVNALLGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFYHCINYTTGE1373
SCN3APLRALSRFEGMRVVVNALVGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFYHCVNMTTGN1371
SCN4APLRALSRFEGMRVVVNALLGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFYYCINTTTSE1196
SCN5APLRALSRFEGMRVVVNALVGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFGRCINQTEGD1370
SCN7APLRVLSQFERMKVVVRALIKTTLPTLNVFL>V<CLMIWLIFSIMGVDLFAGRFYECIDPTSGE1094
SCN8APLRALSRFEGMRVVVNALVGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKYHYCFNETSEI1363
SCN9APLRALSRFEGMRVVVNALIGAIPSIMNVLL>V<CLIFWLIFSIMGVNLFAGKFYECINTTDGS1346
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1035 for CACNA1C.