Paralogue Annotation for CACNA1C residue 1295

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1295
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1295

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1616TGeneralized epilepsy with febrile seizures plusHigh9 18076640

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.



CACNA1CEMILKLIAFKPKHYFCDAWNTFDALIVVGS>I<VDIAITEVNPAE----HTQ----CSPSMNA1317
CACNA1AECVLKVMAFGILNYFRDAWNIFDFVTVLGS>I<TDILVTEFGNN-------------------1653
CACNA1BECVLKIIAFGVLNYFRDAWNVFDFVTVLGS>I<TDILVTEIAET-------------------1559
CACNA1DEMVLKVIAFKPKGYFSDAWNTFDSLIVIGS>I<IDVALSEADPTE----SENVPVPTATPGNS1327
CACNA1EECVLKVIAFGFLNYFRDTWNIFDFITVIGS>I<TEIILTDSKLV-------------------1565
CACNA1FEMVLKIIAFKPKHYFTDAWNTFDALIVVGS>I<VDIAVTEVNNGG----HLG----E----SS1284
CACNA1GESVFKLVAFGFRRFFQDRWNQLDLAIVLLS>I<MGITLEEIEVN-------------------1698
CACNA1HEAALKLVAFGFRRFFKDRWNQLDLAIVLLS>L<MGITLEEIEMS-------------------1704
CACNA1IEAVLKLVAFGLRRFFKDRWNQLDLAIVLLS>V<MGITLEEIEIN-------------------1574
CACNA1SEMILKLMAFKARGYFGDPWNVFDFLIVIGS>I<IDVILSEIDTFLASSGGLYCLGGGCGNVDP1224
SCN10AECVMKMFALR-QYYFTNGWNVFDFIVVVLS>I<ASLIFSAILKS-------------------1562
SCN11AECLIKIFALR-QYYFTNGWNLFDCVVVLLS>I<VSTMISTLENQ-------------------1452
SCN1AECVLKLISLR-HYYFTIGWNIFDFVVVILS>I<VGMFLAELIE--------------------1626
SCN2AECVLKLISLR-YYYFTIGWNIFDFVVVILS>I<VGMFLAELIE--------------------1616
SCN3AEFVLKLVSLR-HYYFTIGWNIFDFVVVILS>I<VGMFLAEMIE--------------------1611
SCN4AECVLKMLALR-QYYFTVGWNIFDFVVVILS>I<VGLALSDLIQ--------------------1438
SCN5AECIVKLAALR-HYYFTNSWNIFDFVVVILS>I<VGTVLSDIIQ--------------------1613
SCN7AECILKLIAFR-CFYFTIAWNIFDFMVVIFS>I<TGLCLPMTVG--------------------1336
SCN8AECVLKMFALR-HYYFTIGWNIFDFVVVILS>I<VGMFLADIIE--------------------1607
SCN9AECVLKLISLR-HYYFTVGWNIFDFVVVIIS>I<VGMFLADLIE--------------------1589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1295 for CACNA1C.