Paralogue Annotation for CACNA1C residue 626

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 626
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 626

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR814QBrugada syndromeHigh9 17442746
SCN5AR814WCardiomyopathy, dilatedHigh9 15671429, 18048769, 24815523, 26733869
SCN4AR675QNormokalaemic periodic paralysisHigh9 15596759, 19065518, 22926674, 19052238, 19225109, 18046642, 25839108, 24682880
SCN4AR675GNormokalaemic periodic paralysisHigh9 15596759, 22926674, 19052238
SCN4AR675WNormokalaemic periodic paralysisHigh9 15596759, 19052238
SCN1AR865GDravet syndromeHigh9 21864321, 24277604
SCN1AR865XMyoclonic epilepsy of infancyHigh9 12083760, 21868258, 23195492, 25525159
SCN8AR850QIntellectual disability and epilepsyHigh9 25785782
SCN2AR856LEpilepsy of infancy with migrating focal seizuresHigh9 26291284

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.



CACNA1CVCGGILETILVETKIMSPLGISVLRCVRLL>R<IFKITRYWNSLSNLVASLLNSVRSIASLLL656
CACNA1AIIGSIFEVIWAVIKPGTSFGISVLRALRLL>R<IFKVTKYWASLRNLVVSLLNSMKSIISLLF619
CACNA1BIVGSVFEVVWAAIKPGSSFGISVLRALRLL>R<IFKVTKYWSSLRNLVVSLLNSMKSIISLLF615
CACNA1DVCGGITETILVELEIMSPLGISVFRCVRLL>R<IFKVTRHWTSLSNLVASLLNSMKSIASLLL675
CACNA1ETVGSIFEVVWAIFRPGTSFGISVLRALRLL>R<IFKITKYWASLRNLVVSLMSSMKSIISLLF608
CACNA1FVCGGILETTLVEVGAMQPLGISVLRCVRLL>R<IFKVTRHWASLSNLVASLLNSMKSIASLLL661
CACNA1GVVISVWEIVGQQGG-----GLSVLRTFRLM>R<VLKLVRFLPALQRQLVVLMKTMDNVATFCM870
CACNA1HVVISVWEIVGQADG-----GLSVLRTFRLL>R<VLKLVRFLPALRRQLVVLVKTMDNVATFCT920
CACNA1IVIISIWEIVGQADG-----GLSVLRTFRLL>R<VLKLVRFMPALRRQLVVLMKTMDNVATFCM767
CACNA1SVCSGILEILLVESGAMTPLGISVLRCIRLL>R<IFKITKYWTSLSNLVASLLNSIRSIASLLL564
SCN10AVTVSLLELGVAKKG-----SLSVLRSFRLL>R<VFKLAKSWPTLNTLIKIIGNSVGALGNLTI792
SCN11AALLSFADVMNCVLQKR---SWPFLRSFRVL>R<VFKLAKSWPTLNTLIKIIGNSVGALGSLTV706
SCN1AVTLSLVELGLANVE-----GLSVLRSFRLL>R<VFKLAKSWPTLNMLIKIIGNSVGALGNLTL895
SCN2AVSLSLMELGLANVE-----GLSVLRSFRLL>R<VFKLAKSWPTLNMLIKIIGNSVGALGNLTL886
SCN3AVSLSLMELGLSNVE-----GLSVLRSFRLL>R<VFKLAKSWPTLNMLIKIIGNSVGALGNLTL887
SCN4AVTLSLVELGLANVQ-----GLSVLRSFRLL>R<VFKLAKSWPTLNMLIKIIGNSVGALGNLTL705
SCN5AVILSLMELGLSRMS-----NLSVLRSFRLL>R<VFKLAKSWPTLNTLIKIIGNSVGALGNLTL844
SCN7AVFHGLIELCLANVA-----GMALLRLFRML>R<IFKLGKYWPTFQILMWSLSNSWVALKDLVL632
SCN8AVSLSLMELSLADVE-----GLSVLRSFRLL>R<VFKLAKSWPTLNMLIKIIGNSVGALGNLTL880
SCN9AVTLSLVELFLADVE-----GLSVLRSFRLL>R<VFKLAKSWPTLNMLIKIIGNSVGALGNLTL860
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 626 for CACNA1C.