Paralogue Annotation for CACNA1C residue 1244

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1244
Reference Amino Acid: S - Serine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1244

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1553RBrugada syndromeHigh9 21321465

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.



CACNA1CYVVNSTYFEYLMFVLILLNTICLAMQHYGQ>S<CLFKIAMNILNMLFTGLFTVEMILKLIAFK1274
CACNA1AQFVVSPPFEYTIMAMIALNTIVLMMKFYGA>S<VAYENALRVFNIVFTSLFSLECVLKVMAFG1621
CACNA1BTFVVSPPFEYFIMAMIALNTVVLMMKFYDA>P<YEYELMLKCLNIVFTSMFSMECVLKIIAFG1527
CACNA1DYVVNSSPFEYMMFVLIMLNTLCLAMQHYEQ>S<KMFNDAMDILNMVFTGVFTVEMVLKVIAFK1280
CACNA1EHFVVSPSFEYTIMAMIALNTVVLMMKYYSA>P<CTYELALKYLNIAFTMVFSLECVLKVIAFG1533
CACNA1FATVNSAAFEYLMFLLILLNTVALAMQHYEQ>T<APFNYAMDILNMVFTGLFTIEMVLKIIAFK1245
CACNA1GHLCTSHYLDLFITGVIGLNVVTMAMEHYQQ>P<QILDEALKICNYIFTVIFVLESVFKLVAFG1666
CACNA1HSLCTSHYLDLFITFIICVNVITMSMEHYNQ>P<KSLDEALKYCNYVFTIVFVFEAALKLVAFG1672
CACNA1ISMCTSHYLDIFITFIICLNVVTMSLEHYNQ>P<TSLETALKYCNYMFTTVFVLEAVLKLVAFG1542
CACNA1SYIVTSSYFEYLMFALIMLNTICLGMQHYNQ>S<EQMNHISDILNVAFTIIFTLEMILKLMAFK1173
SCN10ADIVTRQAFDITIMVLICLNMITMMVETDDQ>S<EEKTKILGKINQFFVAVFTGECVMKMFALR1531
SCN11ADIVTSQIFDIIIISLIILNMISMMAESYNQ>P<KAMKSILDHLNWVFVVIFTLECLIKIFALR1421
SCN1ADFVTRQVFDISIMILICLNMVTMMVETDDQ>S<EYVTTILSRINLVFIVLFTGECVLKLISLR1596
SCN2ADFVTKQVFDISIMILICLNMVTMMVETDDQ>S<QEMTNILYWINLVFIVLFTGECVLKLISLR1586
SCN3ADFVTRQVFDISIMILICLNMVTMMVETDDQ>G<KYMTLVLSRINLVFIVLFTGEFVLKLVSLR1581
SCN4ADLVTKQAFDITIMILICLNMVTMMVETDNQ>S<QLKVDILYNINMIFIIIFTGECVLKMLALR1408
SCN5ADIVTKQAFDVTIMFLICLNMVTMMVETDDQ>S<PEKINILAKINLLFVAIFTGECIVKLAALR1583
SCN7ADVVTSQAFNVIVMVLICFQAIAMMIDTDVQ>S<LQMSIALYWINSIFVMLYTMECILKLIAFR1306
SCN8ADFVTQQAFDIVIMMLICLNMVTMMVETDTQ>S<KQMENILYWINLVFVIFFTCECVLKMFALR1577
SCN9ADLVTNQAFDISIMVLICLNMVTMMVEKEGQ>S<QHMTEVLYWINVVFIILFTGECVLKLISLR1559
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1244 for CACNA1C.