Paralogue Annotation for CACNA1C residue 1190

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1190
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to CACNA1C residue 1190

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM1498TLong QT syndromeMedium3 16414944
SCN5AM1498VLong QT syndromeMedium3 19716085
SCN1AM1511KIntractable epilepsyMedium3 23195492
SCN5AM1498RSick sinus syndromeMedium3 26467377

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.



CACNA1CQEQGEQE----YKNCELDKNQR------QC>V<---EYAL------KARP-------LRRYIP1204
CACNA1AQEQGDKM----MEEYSLEKNER------AC>I<---DFAI------SAKP-------LTRHMP1549
CACNA1BQEQGDKV----MSECSLEKNER------AC>I<---DFAI------SAKP-------LTRYMP1455
CACNA1DQEQGEKE----YKNCELDKNQR------QC>V<---EYAL------KARP-------LRRYIP1210
CACNA1EQEQGDKM----MEECSLEKNER------AC>I<---DFAI------SAKP-------LTRYMP1461
CACNA1FRAQGEQE----YQNCELDKNQR------QC>V<---EYAL------KAQP-------LRRYIP1175
CACNA1GHKCRQHQEEEEARRREEKRLRRLEKKRRNL>M<L--DDVI-----ASGSSASAASEAQCKPYY1594
CACNA1HHKCRQHQEAEEARRREEK----------RL>R<RLERRRRSTFPSPEAQ---------RRPYY1600
CACNA1IHKCRQHQEAEEARRREEK----------RL>R<RLEKKRR------KAQ---------RLPYY1470
CACNA1SQEQGETE----YKNCELDKNQR------QC>V<---QYAL------KARP-------LRCYIP1103
SCN10ANQQKKKLGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1459
SCN11ANQQQKKLGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1349
SCN1ANQQKKKFGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1524
SCN2ANQQKKKFGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1514
SCN3ANQQKKKFGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1509
SCN4ANQQKKKLGGKDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1336
SCN5ANQQKKKLGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1511
SCN7ANKHKIKLGGSNIFITVKQRKQY------RR>L<---KK-L----M-YEDS--------QRPVP1234
SCN8ANQQKKKFGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1505
SCN9ANQQKKKLGGQDIFMTEEQKKYY------NA>M<---KK-L----G-SKKP--------QKPIP1487
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1190 for CACNA1C.