Paralogue Annotation for CACNA1C residue 634

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 634
Reference Amino Acid: W - Tryptophan
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 634

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AW822XBrugada syndromeHigh9 16239976, 19377070, 18551308, 25525159
SCN5AW822CBrugada syndromeHigh9 22840528

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.



CACNA1CILVETKIMSPLGISVLRCVRLLRIFKITRY>W<NSLSNLVASLLNSVRSIASLLLLLFLFIII664
CACNA1AIWAVIKPGTSFGISVLRALRLLRIFKVTKY>W<ASLRNLVVSLLNSMKSIISLLFLLFLFIVV627
CACNA1BVWAAIKPGSSFGISVLRALRLLRIFKVTKY>W<SSLRNLVVSLLNSMKSIISLLFLLFLFIVV623
CACNA1DILVELEIMSPLGISVFRCVRLLRIFKVTRH>W<TSLSNLVASLLNSMKSIASLLLLLFLFIII683
CACNA1EVWAIFRPGTSFGISVLRALRLLRIFKITKY>W<ASLRNLVVSLMSSMKSIISLLFLLFLFIVV616
CACNA1FTLVEVGAMQPLGISVLRCVRLLRIFKVTRH>W<ASLSNLVASLLNSMKSIASLLLLLFLFIII669
CACNA1GVGQQGG-----GLSVLRTFRLMRVLKLVRF>L<PALQRQLVVLMKTMDNVATFCMLLMLFIFI878
CACNA1HVGQADG-----GLSVLRTFRLLRVLKLVRF>L<PALRRQLVVLVKTMDNVATFCTLLMLFIFI928
CACNA1IVGQADG-----GLSVLRTFRLLRVLKLVRF>M<PALRRQLVVLMKTMDNVATFCMLLMLFIFI775
CACNA1SLLVESGAMTPLGISVLRCIRLLRIFKITKY>W<TSLSNLVASLLNSIRSIASLLLLLFLFIVI572
SCN10AGVAKKG-----SLSVLRSFRLLRVFKLAKS>W<PTLNTLIKIIGNSVGALGNLTIILAIIVFV800
SCN11AMNCVLQKR---SWPFLRSFRVLRVFKLAKS>W<PTLNTLIKIIGNSVGALGSLTVVLVIVIFI714
SCN1AGLANVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI903
SCN2AGLANVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI894
SCN3AGLSNVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI895
SCN4AGLANVQ-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI713
SCN5AGLSRMS-----NLSVLRSFRLLRVFKLAKS>W<PTLNTLIKIIGNSVGALGNLTLVLAIIVFI852
SCN7ACLANVA-----GMALLRLFRMLRIFKLGKY>W<PTFQILMWSLSNSWVALKDLVLLLFTFIFF640
SCN8ASLADVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI888
SCN9AFLADVE-----GLSVLRSFRLLRVFKLAKS>W<PTLNMLIKIIGNSVGALGNLTLVLAIIVFI868
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 634 for CACNA1C.