Paralogue Annotation for CACNA1C residue 1198

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1198
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1198

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1519TDravet syndromeHigh4 23398550
SCN5AP1506TBrugada syndromeHigh4 23321620
SCN5AP1506SBrugada syndromeHigh4 25626866, 25626866

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.



CACNA1CDKNQR------QCV---EYAL------KAR>P<-------LRRYIPK--NQHQYKVWYVVNST1219
CACNA1AEKNER------ACI---DFAI------SAK>P<-------LTRHMPQNKQSFQYRMWQFVVSP1566
CACNA1BEKNER------ACI---DFAI------SAK>P<-------LTRYMPQNRQSFQYKTWTFVVSP1472
CACNA1DDKNQR------QCV---EYAL------KAR>P<-------LRRYIPK--NPYQYKFWYVVNSS1225
CACNA1EEKNER------ACI---DFAI------SAK>P<-------LTRYMPQNRHTFQYRVWHFVVSP1478
CACNA1FDKNQR------QCV---EYAL------KAQ>P<-------LRRYIPK--NPHQYRVWATVNSA1190
CACNA1GKRLRRLEKKRRNLML--DDVI-----ASGS>S<ASAASEAQCKPYYSDYSRFRLLVHHLCTSH1611
CACNA1HK----------RLRRLERRRRSTFPSPEAQ>-<--------RRPYYADYSPTRRSIHSLCTSH1617
CACNA1IK----------RLRRLEKKRR------KAQ>-<--------RLPYYATYCHTRLLIHSMCTSH1487
CACNA1SDKNQR------QCV---QYAL------KAR>P<-------LRCYIPK--NPYQYQVWYIVTSS1118
SCN10AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKFQGFVFDIVTRQ1476
SCN11AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKCQGLVFDIVTSQ1366
SCN1AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPGNKFQGMVFDFVTRQ1541
SCN2AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPANKFQGMVFDFVTKQ1531
SCN3AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPANKFQGMVFDFVTRQ1526
SCN4AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPQNKIQGMVYDLVTKQ1353
SCN5AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKYQGFIFDIVTKQ1528
SCN7AQRKQY------RRL---KK-L----M-YED>S<--------QRPVPRPLNKLQGFIFDVVTSQ1251
SCN8AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPLNKIQGIVFDFVTQQ1522
SCN9AQKKYY------NAM---KK-L----G-SKK>P<--------QKPIPRPGNKIQGCIFDLVTNQ1504
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1198 for CACNA1C.