Paralogue Annotation for CACNA1C residue 623

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 623
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 623

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AR672SHypokalaemic periodic paralysisHigh9 11558801, 18824591
SCN4AR672GHypokalaemic periodic paralysisHigh9 10944223, 17330043, 18824591, 19225109, 20660662, 25024265
SCN4AR672CHypokalaemic periodic paralysisHigh9 15482957, 18824591
SCN4AR672HHypokalaemic periodic paralysisHigh9 10944223, 23019082, 18824591, 19225109, 20660662
SCN1AR862QDravet syndrome C ?High9 21248271, 20110217
SCN1AR862GMigrating partial seizures of infancyHigh9 21753172
SCN1AR862XGeneralized epilepsy with febrile seizures plusHigh9 19522081, 23195492, 24168886, 25525159
SCN5AR811HBrugada syndromeHigh9 23424222
SCN2AR853QWest syndromeHigh9 23935176, 23934111

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.



CACNA1CCFVVCGGILETILVETKIMSPLGISVLRCV>R<LLRIFKITRYWNSLSNLVASLLNSVRSIAS653
CACNA1ACGVIIGSIFEVIWAVIKPGTSFGISVLRAL>R<LLRIFKVTKYWASLRNLVVSLLNSMKSIIS616
CACNA1BFGVIVGSVFEVVWAAIKPGSSFGISVLRAL>R<LLRIFKVTKYWSSLRNLVVSLLNSMKSIIS612
CACNA1DCFVVCGGITETILVELEIMSPLGISVFRCV>R<LLRIFKVTRHWTSLSNLVASLLNSMKSIAS672
CACNA1EFGVTVGSIFEVVWAIFRPGTSFGISVLRAL>R<LLRIFKITKYWASLRNLVVSLMSSMKSIIS605
CACNA1FCFVVCGGILETTLVEVGAMQPLGISVLRCV>R<LLRIFKVTRHWASLSNLVASLLNSMKSIAS658
CACNA1GGVIVVISVWEIVGQQGG-----GLSVLRTF>R<LMRVLKLVRFLPALQRQLVVLMKTMDNVAT867
CACNA1HGIIVVISVWEIVGQADG-----GLSVLRTF>R<LLRVLKLVRFLPALRRQLVVLVKTMDNVAT917
CACNA1ISIIVIISIWEIVGQADG-----GLSVLRTF>R<LLRVLKLVRFMPALRRQLVVLMKTMDNVAT764
CACNA1SCFVVCSGILEILLVESGAMTPLGISVLRCI>R<LLRIFKITKYWTSLSNLVASLLNSIRSIAS561
SCN10ACIIVTVSLLELGVAKKG-----SLSVLRSF>R<LLRVFKLAKSWPTLNTLIKIIGNSVGALGN789
SCN11ASIVALLSFADVMNCVLQKR---SWPFLRSF>R<VLRVFKLAKSWPTLNTLIKIIGNSVGALGS703
SCN1AGFIVTLSLVELGLANVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN892
SCN2AGFIVSLSLMELGLANVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN883
SCN3AGIIVSLSLMELGLSNVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN884
SCN4ASIIVTLSLVELGLANVQ-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN702
SCN5ASIIVILSLMELGLSRMS-----NLSVLRSF>R<LLRVFKLAKSWPTLNTLIKIIGNSVGALGN841
SCN7ASMIVFHGLIELCLANVA-----GMALLRLF>R<MLRIFKLGKYWPTFQILMWSLSNSWVALKD629
SCN8AGFIVSLSLMELSLADVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN877
SCN9ASLIVTLSLVELFLADVE-----GLSVLRSF>R<LLRVFKLAKSWPTLNMLIKIIGNSVGALGN857
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 623 for CACNA1C.