Paralogue Annotation for CACNA1C residue 1296

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1296
Reference Amino Acid: V - Valine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1296

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1604MBrugada syndromeHigh9 20129283

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.



CACNA1CMILKLIAFKPKHYFCDAWNTFDALIVVGSI>V<DIAITEVNPAE----HTQ----CSPSMNAE1318
CACNA1ACVLKVMAFGILNYFRDAWNIFDFVTVLGSI>T<DILVTEFGNN--------------------1653
CACNA1BCVLKIIAFGVLNYFRDAWNVFDFVTVLGSI>T<DILVTEIAET--------------------1559
CACNA1DMVLKVIAFKPKGYFSDAWNTFDSLIVIGSI>I<DVALSEADPTE----SENVPVPTATPGNSE1328
CACNA1ECVLKVIAFGFLNYFRDTWNIFDFITVIGSI>T<EIILTDSKLV--------------------1565
CACNA1FMVLKIIAFKPKHYFTDAWNTFDALIVVGSI>V<DIAVTEVNNGG----HLG----E----SSE1285
CACNA1GSVFKLVAFGFRRFFQDRWNQLDLAIVLLSI>M<GITLEEIEVN--------------------1698
CACNA1HAALKLVAFGFRRFFKDRWNQLDLAIVLLSL>M<GITLEEIEMS--------------------1704
CACNA1IAVLKLVAFGLRRFFKDRWNQLDLAIVLLSV>M<GITLEEIEIN--------------------1574
CACNA1SMILKLMAFKARGYFGDPWNVFDFLIVIGSI>I<DVILSEIDTFLASSGGLYCLGGGCGNVDPD1225
SCN10ACVMKMFALR-QYYFTNGWNVFDFIVVVLSI>A<SLIFSAILKS--------------------1562
SCN11ACLIKIFALR-QYYFTNGWNLFDCVVVLLSI>V<STMISTLENQ--------------------1452
SCN1ACVLKLISLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAELIE---------------------1626
SCN2ACVLKLISLR-YYYFTIGWNIFDFVVVILSI>V<GMFLAELIE---------------------1616
SCN3AFVLKLVSLR-HYYFTIGWNIFDFVVVILSI>V<GMFLAEMIE---------------------1611
SCN4ACVLKMLALR-QYYFTVGWNIFDFVVVILSI>V<GLALSDLIQ---------------------1438
SCN5ACIVKLAALR-HYYFTNSWNIFDFVVVILSI>V<GTVLSDIIQ---------------------1613
SCN7ACILKLIAFR-CFYFTIAWNIFDFMVVIFSI>T<GLCLPMTVG---------------------1336
SCN8ACVLKMFALR-HYYFTIGWNIFDFVVVILSI>V<GMFLADIIE---------------------1607
SCN9ACVLKLISLR-HYYFTVGWNIFDFVVVIISI>V<GMFLADLIE---------------------1589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1296 for CACNA1C.