Paralogue Annotation for CACNA1C residue 624

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 624
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 624

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL863WDravet syndromeHigh9 24168886
SCN5AL812QBrugada syndromeHigh9 26279430

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.



CACNA1CFVVCGGILETILVETKIMSPLGISVLRCVR>L<LRIFKITRYWNSLSNLVASLLNSVRSIASL654
CACNA1AGVIIGSIFEVIWAVIKPGTSFGISVLRALR>L<LRIFKVTKYWASLRNLVVSLLNSMKSIISL617
CACNA1BGVIVGSVFEVVWAAIKPGSSFGISVLRALR>L<LRIFKVTKYWSSLRNLVVSLLNSMKSIISL613
CACNA1DFVVCGGITETILVELEIMSPLGISVFRCVR>L<LRIFKVTRHWTSLSNLVASLLNSMKSIASL673
CACNA1EGVTVGSIFEVVWAIFRPGTSFGISVLRALR>L<LRIFKITKYWASLRNLVVSLMSSMKSIISL606
CACNA1FFVVCGGILETTLVEVGAMQPLGISVLRCVR>L<LRIFKVTRHWASLSNLVASLLNSMKSIASL659
CACNA1GVIVVISVWEIVGQQGG-----GLSVLRTFR>L<MRVLKLVRFLPALQRQLVVLMKTMDNVATF868
CACNA1HIIVVISVWEIVGQADG-----GLSVLRTFR>L<LRVLKLVRFLPALRRQLVVLVKTMDNVATF918
CACNA1IIIVIISIWEIVGQADG-----GLSVLRTFR>L<LRVLKLVRFMPALRRQLVVLMKTMDNVATF765
CACNA1SFVVCSGILEILLVESGAMTPLGISVLRCIR>L<LRIFKITKYWTSLSNLVASLLNSIRSIASL562
SCN10AIIVTVSLLELGVAKKG-----SLSVLRSFR>L<LRVFKLAKSWPTLNTLIKIIGNSVGALGNL790
SCN11AIVALLSFADVMNCVLQKR---SWPFLRSFR>V<LRVFKLAKSWPTLNTLIKIIGNSVGALGSL704
SCN1AFIVTLSLVELGLANVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL893
SCN2AFIVSLSLMELGLANVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL884
SCN3AIIVSLSLMELGLSNVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL885
SCN4AIIVTLSLVELGLANVQ-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL703
SCN5AIIVILSLMELGLSRMS-----NLSVLRSFR>L<LRVFKLAKSWPTLNTLIKIIGNSVGALGNL842
SCN7AMIVFHGLIELCLANVA-----GMALLRLFR>M<LRIFKLGKYWPTFQILMWSLSNSWVALKDL630
SCN8AFIVSLSLMELSLADVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL878
SCN9ALIVTLSLVELFLADVE-----GLSVLRSFR>L<LRVFKLAKSWPTLNMLIKIIGNSVGALGNL858
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L624Mc.1870C>A Putative BenignSIFT: deleterious
Polyphen: probably damaging