Paralogue Annotation for CACNA1C residue 999

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 999
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 999

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT1304MLong QT syndromeMedium9 10508990, 17210841, 22378279, 22685113, 23465283, 24055113, 24613995, 25210526, 25637381, 27153395

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.



CACNA1CVSVSLISF----G----IQSSAINVVKILR>V<LRVLRPLRAINRAKGLKHVVQCVFVAIRTI1029
CACNA1AVSGALVAFAFTGN----SKGKDINTIKSLR>V<LRVLRPLKTIKRLPKLKAVFDCVVNSLKNV1377
CACNA1BVSGALVAFAFS-G----SKGKDINTIKSLR>V<LRVLRPLKTIKRLPKLKAVFDCVVNSLKNV1283
CACNA1DVGVSLVSF----G----IQSSAISVVKILR>V<LRVLRPLRAINRAKGLKHVVQCVFVAIRTI1035
CACNA1EVVGALVAFALANA-LGTNKGRDIKTIKSLR>V<LRVLRPLKTIKRLPKLKAVFDCVVTSLKNV1289
CACNA1FVSVSLISF----G----IHSSAISVVKILR>V<LRVLRPLRAINRAKGLKHVVQCVFVAIRTI1000
CACNA1GVLISVIDILVS-MVSD-SGTKILGMLRVLR>L<LRTLRPLRVISRAQGLKLVVETLMSSLKPI1412
CACNA1HVLVSLVDIVVA-MASA-GGAKILGVLRVLR>L<LRTLRPLRVISRAPGLKLVVETLISSLRPI1430
CACNA1IVFVSIIDIVVS-LASA-GGAKILGVLRVLR>L<LRTLRPLRVISRAPGLKLVVETLISSLKPI1306
CACNA1SVAVSLISM----G----LESSAISVVKILR>V<LRVLRPLRAINRAKGLKHVVQCMFVAISTI928
SCN10AVNISLISLTAK-I----LEYSEVAPIKALR>T<LRALRPLRALSRFEGMRVVVDALVGAIPSI1281
SCN11AVIVSVTTLI---------N---LMELKSFR>T<LRALRPLRALSQFEGMKVVVNALIGAIPAI1178
SCN1AVDVSLVSLTAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALLGAIPSI1347
SCN2AVDVSLVSLTAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALLGAIPSI1337
SCN3AVDVSLVSLVAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALVGAIPSI1335
SCN4AVDVSIISLVAN-W----LGYSELGPIKSLR>T<LRALRPLRALSRFEGMRVVVNALLGAIPSI1160
SCN5AVDVSLVSLVAN-T----LGFAEMGPIKSLR>T<LRALRPLRALSRFEGMRVVVNALVGAIPSI1334
SCN7AVIVFCLSLIGK-T----RE--E---LKPLI>S<MKFLRPLRVLSQFERMKVVVRALIKTTLPT1058
SCN8AVAVSLVSLIAN-A----LGYSELGAIKSLR>T<LRALRPLRALSRFEGMRVVVNALVGAIPSI1327
SCN9AVDVSLVTLVAN-T----LGYSDLGPIKSLR>T<LRALRPLRALSRFEGMRVVVNALIGAIPSI1310
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 999 for CACNA1C.