Paralogue Annotation for CACNA1C residue 619

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 619
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 619

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AL823RErythermalgia, primaryHigh9 19800314

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.



CACNA1CNRFDCFVVCGGILETILVETKIMSPLGISV>L<RCVRLLRIFKITRYWNSLSNLVASLLNSVR649
CACNA1ANCFDCGVIIGSIFEVIWAVIKPGTSFGISV>L<RALRLLRIFKVTKYWASLRNLVVSLLNSMK612
CACNA1BNCFDFGVIVGSVFEVVWAAIKPGSSFGISV>L<RALRLLRIFKVTKYWSSLRNLVVSLLNSMK608
CACNA1DNRFDCFVVCGGITETILVELEIMSPLGISV>F<RCVRLLRIFKVTRHWTSLSNLVASLLNSMK668
CACNA1ENCFDFGVTVGSIFEVVWAIFRPGTSFGISV>L<RALRLLRIFKITKYWASLRNLVVSLMSSMK601
CACNA1FNRFDCFVVCGGILETTLVEVGAMQPLGISV>L<RCVRLLRIFKVTRHWASLSNLVASLLNSMK654
CACNA1GNIFDGVIVVISVWEIVGQQGG-----GLSV>L<RTFRLMRVLKLVRFLPALQRQLVVLMKTMD863
CACNA1HNIFDGIIVVISVWEIVGQADG-----GLSV>L<RTFRLLRVLKLVRFLPALRRQLVVLVKTMD913
CACNA1INIFDSIIVIISIWEIVGQADG-----GLSV>L<RTFRLLRVLKLVRFMPALRRQLVVLMKTMD760
CACNA1SNRFDCFVVCSGILEILLVESGAMTPLGISV>L<RCIRLLRIFKITKYWTSLSNLVASLLNSIR557
SCN10ANIFDCIIVTVSLLELGVAKKG-----SLSV>L<RSFRLLRVFKLAKSWPTLNTLIKIIGNSVG785
SCN11ANIFDSIVALLSFADVMNCVLQKR---SWPF>L<RSFRVLRVFKLAKSWPTLNTLIKIIGNSVG699
SCN1ANIFDGFIVTLSLVELGLANVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG888
SCN2ANIFDGFIVSLSLMELGLANVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG879
SCN3ANIFDGIIVSLSLMELGLSNVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG880
SCN4ANIFDSIIVTLSLVELGLANVQ-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG698
SCN5ANIFDSIIVILSLMELGLSRMS-----NLSV>L<RSFRLLRVFKLAKSWPTLNTLIKIIGNSVG837
SCN7ANIFDSMIVFHGLIELCLANVA-----GMAL>L<RLFRMLRIFKLGKYWPTFQILMWSLSNSWV625
SCN8ANIFDGFIVSLSLMELSLADVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG873
SCN9ANIFDSLIVTLSLVELFLADVE-----GLSV>L<RSFRLLRVFKLAKSWPTLNMLIKIIGNSVG853
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 619 for CACNA1C.