Paralogue Annotation for CACNA1C residue 1002

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1002
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 1002

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1320VDravet syndrome B ?Medium9 21248271
CACNA1AV1350LParoxysmal tonic upward gazeHigh9 25596066

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.



CACNA1CSLISF----G----IQSSAINVVKILRVLR>V<LRPLRAINRAKGLKHVVQCVFVAIRTIGNI1032
CACNA1AALVAFAFTGN----SKGKDINTIKSLRVLR>V<LRPLKTIKRLPKLKAVFDCVVNSLKNVFNI1380
CACNA1BALVAFAFS-G----SKGKDINTIKSLRVLR>V<LRPLKTIKRLPKLKAVFDCVVNSLKNVLNI1286
CACNA1DSLVSF----G----IQSSAISVVKILRVLR>V<LRPLRAINRAKGLKHVVQCVFVAIRTIGNI1038
CACNA1EALVAFALANA-LGTNKGRDIKTIKSLRVLR>V<LRPLKTIKRLPKLKAVFDCVVTSLKNVFNI1292
CACNA1FSLISF----G----IHSSAISVVKILRVLR>V<LRPLRAINRAKGLKHVVQCVFVAIRTIGNI1003
CACNA1GSVIDILVS-MVSD-SGTKILGMLRVLRLLR>T<LRPLRVISRAQGLKLVVETLMSSLKPIGNI1415
CACNA1HSLVDIVVA-MASA-GGAKILGVLRVLRLLR>T<LRPLRVISRAPGLKLVVETLISSLRPIGNI1433
CACNA1ISIIDIVVS-LASA-GGAKILGVLRVLRLLR>T<LRPLRVISRAPGLKLVVETLISSLKPIGNI1309
CACNA1SSLISM----G----LESSAISVVKILRVLR>V<LRPLRAINRAKGLKHVVQCMFVAISTIGNI931
SCN10ASLISLTAK-I----LEYSEVAPIKALRTLR>A<LRPLRALSRFEGMRVVVDALVGAIPSIMNV1284
SCN11ASVTTLI---------N---LMELKSFRTLR>A<LRPLRALSQFEGMKVVVNALIGAIPAILNV1181
SCN1ASLVSLTAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALLGAIPSIMNV1350
SCN2ASLVSLTAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALLGAIPSIMNV1340
SCN3ASLVSLVAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALVGAIPSIMNV1338
SCN4ASIISLVAN-W----LGYSELGPIKSLRTLR>A<LRPLRALSRFEGMRVVVNALLGAIPSIMNV1163
SCN5ASLVSLVAN-T----LGFAEMGPIKSLRTLR>A<LRPLRALSRFEGMRVVVNALVGAIPSIMNV1337
SCN7AFCLSLIGK-T----RE--E---LKPLISMK>F<LRPLRVLSQFERMKVVVRALIKTTLPTLNV1061
SCN8ASLVSLIAN-A----LGYSELGAIKSLRTLR>A<LRPLRALSRFEGMRVVVNALVGAIPSIMNV1330
SCN9ASLVTLVAN-T----LGYSDLGPIKSLRTLR>A<LRPLRALSRFEGMRVVVNALIGAIPSIMNV1313
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1002 for CACNA1C.