Paralogue Annotation for CACNA1C residue 1294

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1294
Reference Amino Acid: S - Serine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1294

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FS1265INight blindness, congenital stationary, incompleteHigh9 15761389
SCN8AS1596CIntellectual disability and epilepsyHigh9 25785782, 26252990

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.



CACNA1CVEMILKLIAFKPKHYFCDAWNTFDALIVVG>S<IVDIAITEVNPAE----HTQ----CSPSMN1316
CACNA1ALECVLKVMAFGILNYFRDAWNIFDFVTVLG>S<ITDILVTEFGNN------------------1653
CACNA1BMECVLKIIAFGVLNYFRDAWNVFDFVTVLG>S<ITDILVTEIAET------------------1559
CACNA1DVEMVLKVIAFKPKGYFSDAWNTFDSLIVIG>S<IIDVALSEADPTE----SENVPVPTATPGN1326
CACNA1ELECVLKVIAFGFLNYFRDTWNIFDFITVIG>S<ITEIILTDSKLV------------------1565
CACNA1FIEMVLKIIAFKPKHYFTDAWNTFDALIVVG>S<IVDIAVTEVNNGG----HLG----E----S1283
CACNA1GLESVFKLVAFGFRRFFQDRWNQLDLAIVLL>S<IMGITLEEIEVN------------------1698
CACNA1HFEAALKLVAFGFRRFFKDRWNQLDLAIVLL>S<LMGITLEEIEMS------------------1704
CACNA1ILEAVLKLVAFGLRRFFKDRWNQLDLAIVLL>S<VMGITLEEIEIN------------------1574
CACNA1SLEMILKLMAFKARGYFGDPWNVFDFLIVIG>S<IIDVILSEIDTFLASSGGLYCLGGGCGNVD1223
SCN10AGECVMKMFALR-QYYFTNGWNVFDFIVVVL>S<IASLIFSAILKS------------------1562
SCN11ALECLIKIFALR-QYYFTNGWNLFDCVVVLL>S<IVSTMISTLENQ------------------1452
SCN1AGECVLKLISLR-HYYFTIGWNIFDFVVVIL>S<IVGMFLAELIE-------------------1626
SCN2AGECVLKLISLR-YYYFTIGWNIFDFVVVIL>S<IVGMFLAELIE-------------------1616
SCN3AGEFVLKLVSLR-HYYFTIGWNIFDFVVVIL>S<IVGMFLAEMIE-------------------1611
SCN4AGECVLKMLALR-QYYFTVGWNIFDFVVVIL>S<IVGLALSDLIQ-------------------1438
SCN5AGECIVKLAALR-HYYFTNSWNIFDFVVVIL>S<IVGTVLSDIIQ-------------------1613
SCN7AMECILKLIAFR-CFYFTIAWNIFDFMVVIF>S<ITGLCLPMTVG-------------------1336
SCN8ACECVLKMFALR-HYYFTIGWNIFDFVVVIL>S<IVGMFLADIIE-------------------1607
SCN9AGECVLKLISLR-HYYFTVGWNIFDFVVVII>S<IVGMFLADLIE-------------------1589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1294 for CACNA1C.