Paralogue Annotation for CACNA1C residue 609

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 609
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 609

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AE853KMyoclonic epilepsy of infancyMedium5 17054684

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.



CACNA1CGLQAYFVSLFNRFDCFVVCGGILETILVET>K<IMSPLGISVLRCVRLLRIFKITRYWNSLSN639
CACNA1AGTRPYFHSSFNCFDCGVIIGSIFEVIWAVI>K<PGTSFGISVLRALRLLRIFKVTKYWASLRN602
CACNA1BGPRSYFRSSFNCFDFGVIVGSVFEVVWAAI>K<PGSSFGISVLRALRLLRIFKVTKYWSSLRN598
CACNA1DGLQAYFVSLFNRFDCFVVCGGITETILVEL>E<IMSPLGISVFRCVRLLRIFKVTRHWTSLSN658
CACNA1EGPRLYFHSSFNCFDFGVTVGSIFEVVWAIF>R<PGTSFGISVLRALRLLRIFKITKYWASLRN591
CACNA1FGPSAYVSSFFNRFDCFVVCGGILETTLVEV>G<AMQPLGISVLRCVRLLRIFKVTRHWASLSN644
CACNA1GGPFGYIKNPYNIFDGVIVVISVWEIVGQQG>G<-----GLSVLRTFRLMRVLKLVRFLPALQR853
CACNA1HGPLGYIRNPYNIFDGIIVVISVWEIVGQAD>G<-----GLSVLRTFRLLRVLKLVRFLPALRR903
CACNA1IGLFDYLRNPYNIFDSIIVIISIWEIVGQAD>G<-----GLSVLRTFRLLRVLKLVRFMPALRR750
CACNA1SGLRQYFMSIFNRFDCFVVCSGILEILLVES>G<AMTPLGISVLRCIRLLRIFKITKYWTSLSN547
SCN10ADPYYYFQKKWNIFDCIIVTVSLLELGVAKK>G<-----SLSVLRSFRLLRVFKLAKSWPTLNT775
SCN11ADPYHYFRRGWNIFDSIVALLSFADVMNCVL>Q<KR---SWPFLRSFRVLRVFKLAKSWPTLNT689
SCN1ADPYYYFQEGWNIFDGFIVTLSLVELGLANV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM878
SCN2ADPYYYFQEGWNIFDGFIVSLSLMELGLANV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM869
SCN3ADPYYYFQEGWNIFDGIIVSLSLMELGLSNV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM870
SCN4ADPYEYFQQGWNIFDSIIVTLSLVELGLANV>Q<-----GLSVLRSFRLLRVFKLAKSWPTLNM688
SCN5ADPYYYFQQGWNIFDSIIVILSLMELGLSRM>S<-----NLSVLRSFRLLRVFKLAKSWPTLNT827
SCN7AHPYGYFQVGWNIFDSMIVFHGLIELCLANV>A<-----GMALLRLFRMLRIFKLGKYWPTFQI615
SCN8ADPYYYFQEGWNIFDGFIVSLSLMELSLADV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM863
SCN9ADPYEYFQVGWNIFDSLIVTLSLVELFLADV>E<-----GLSVLRSFRLLRVFKLAKSWPTLNM843
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 609 for CACNA1C.