Paralogue Annotation for CACNA1C residue 622

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 622
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 622

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AF671SMyotonia, non-dystrophicMedium9 18337100, 26252573
SCN8AF846SMigrating partial seizures of infancyMedium9 24888894

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.



CACNA1CDCFVVCGGILETILVETKIMSPLGISVLRC>V<RLLRIFKITRYWNSLSNLVASLLNSVRSIA652
CACNA1ADCGVIIGSIFEVIWAVIKPGTSFGISVLRA>L<RLLRIFKVTKYWASLRNLVVSLLNSMKSII615
CACNA1BDFGVIVGSVFEVVWAAIKPGSSFGISVLRA>L<RLLRIFKVTKYWSSLRNLVVSLLNSMKSII611
CACNA1DDCFVVCGGITETILVELEIMSPLGISVFRC>V<RLLRIFKVTRHWTSLSNLVASLLNSMKSIA671
CACNA1EDFGVTVGSIFEVVWAIFRPGTSFGISVLRA>L<RLLRIFKITKYWASLRNLVVSLMSSMKSII604
CACNA1FDCFVVCGGILETTLVEVGAMQPLGISVLRC>V<RLLRIFKVTRHWASLSNLVASLLNSMKSIA657
CACNA1GDGVIVVISVWEIVGQQGG-----GLSVLRT>F<RLMRVLKLVRFLPALQRQLVVLMKTMDNVA866
CACNA1HDGIIVVISVWEIVGQADG-----GLSVLRT>F<RLLRVLKLVRFLPALRRQLVVLVKTMDNVA916
CACNA1IDSIIVIISIWEIVGQADG-----GLSVLRT>F<RLLRVLKLVRFMPALRRQLVVLMKTMDNVA763
CACNA1SDCFVVCSGILEILLVESGAMTPLGISVLRC>I<RLLRIFKITKYWTSLSNLVASLLNSIRSIA560
SCN10ADCIIVTVSLLELGVAKKG-----SLSVLRS>F<RLLRVFKLAKSWPTLNTLIKIIGNSVGALG788
SCN11ADSIVALLSFADVMNCVLQKR---SWPFLRS>F<RVLRVFKLAKSWPTLNTLIKIIGNSVGALG702
SCN1ADGFIVTLSLVELGLANVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG891
SCN2ADGFIVSLSLMELGLANVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG882
SCN3ADGIIVSLSLMELGLSNVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG883
SCN4ADSIIVTLSLVELGLANVQ-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG701
SCN5ADSIIVILSLMELGLSRMS-----NLSVLRS>F<RLLRVFKLAKSWPTLNTLIKIIGNSVGALG840
SCN7ADSMIVFHGLIELCLANVA-----GMALLRL>F<RMLRIFKLGKYWPTFQILMWSLSNSWVALK628
SCN8ADGFIVSLSLMELSLADVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG876
SCN9ADSLIVTLSLVELFLADVE-----GLSVLRS>F<RLLRVFKLAKSWPTLNMLIKIIGNSVGALG856
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V622Ic.1864G>A Putative BenignSIFT:
Polyphen: