Paralogue Annotation for CACNA1C residue 1476

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1476
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1476

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1772VLong QT syndromeMedium9 19996378

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.



CACNA1CCGS-SFAVFYFISFYMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWAEYD1505
CACNA1ACGN-EFAYFYFVSFIFLCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEYVRVWAEYD1840
CACNA1BCGS-DFAYFYFVSFIFLCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEFIRVWAEYD1738
CACNA1DCGS-NFAIVYFISFYMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWSEYD1513
CACNA1ECGT-DLAYVYFVSFIFFCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEFVRVWAEYD1752
CACNA1FCGS-NFAIAYFISFFMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWSEYD1470
CACNA1GYNT-VISPIYFVSFVLTAQFVLVNVVIAVL>M<KHLEESNKEAKE---EAELEAELELEMKT-1877
CACNA1HYLP-ALSPVYFVTFVLVAQFVLVNVVVAVL>M<KHLEESNKEARE---DAELDAEIELEMAQG1887
CACNA1ISLQ-FVSPLYFVSFVLTAQFVLINVVVAVL>M<KHLDDSNKEAQE---DAEMDAELELEMAHG1757
CACNA1SCGT-NFAYYYFISFYMLCAFLVINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKAIWAEYD1410
SCN10ACGSPAVGIIFFTTYIIISFLIMVNMYIAVI>L<ENFNVATEESTEPLSEDDFDMFYETWEKFD1752
SCN11ACHLPGIATSYFVSYIIISFLIVVNMYIAVI>L<ENFNTATEESEDPLGEDDFDIFYEVWEKFD1634
SCN1ACGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD1816
SCN2ACGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD1806
SCN3ACGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD1801
SCN4ACGNPSIGICFFCSYIIISFLIVVNMYIAII>L<ENFNVATEESSEPLGEDDFEMFYETWEKFD1628
SCN5ACGSPAVGILFFTTYIIISFLIVVNMYIAII>L<ENFSVATEESTEPLSEDDFDMFYEIWEKFD1802
SCN7ACGNPSVGIFYFVSYILISWLIIVNMYIVVV>M<EFLNIASKKKNKTLSEDDFRKFFQVWKRFD1526
SCN8ACGNPSVGIFFFVSYIIISFLIVVNMYIAII>L<ENFSVATEESADPLSEDDFETFYEIWEKFD1796
SCN9ACGNPSVGIFYFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESTEPLSEDDFEMFYEVWEKFD1779
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1476 for CACNA1C.