Paralogue Annotation for CACNA1C residue 636

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 636
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 636

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT875KDravet syndromeMedium9 18930999, 20522430
SCN1AT875MGeneralised epilepsy with febrile seizures plus 2Medium9 10742094, 11422459, 11567038, 12086636, 14702334, 23195492

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.



CACNA1CVETKIMSPLGISVLRCVRLLRIFKITRYWN>S<LSNLVASLLNSVRSIASLLLLLFLFIIIFS666
CACNA1AAVIKPGTSFGISVLRALRLLRIFKVTKYWA>S<LRNLVVSLLNSMKSIISLLFLLFLFIVVFA629
CACNA1BAAIKPGSSFGISVLRALRLLRIFKVTKYWS>S<LRNLVVSLLNSMKSIISLLFLLFLFIVVFA625
CACNA1DVELEIMSPLGISVFRCVRLLRIFKVTRHWT>S<LSNLVASLLNSMKSIASLLLLLFLFIIIFS685
CACNA1EAIFRPGTSFGISVLRALRLLRIFKITKYWA>S<LRNLVVSLMSSMKSIISLLFLLFLFIVVFA618
CACNA1FVEVGAMQPLGISVLRCVRLLRIFKVTRHWA>S<LSNLVASLLNSMKSIASLLLLLFLFIIIFS671
CACNA1GQQGG-----GLSVLRTFRLMRVLKLVRFLP>A<LQRQLVVLMKTMDNVATFCMLLMLFIFIFS880
CACNA1HQADG-----GLSVLRTFRLLRVLKLVRFLP>A<LRRQLVVLVKTMDNVATFCTLLMLFIFIFS930
CACNA1IQADG-----GLSVLRTFRLLRVLKLVRFMP>A<LRRQLVVLMKTMDNVATFCMLLMLFIFIFS777
CACNA1SVESGAMTPLGISVLRCIRLLRIFKITKYWT>S<LSNLVASLLNSIRSIASLLLLLFLFIVIFA574
SCN10AAKKG-----SLSVLRSFRLLRVFKLAKSWP>T<LNTLIKIIGNSVGALGNLTIILAIIVFVFA802
SCN11ACVLQKR---SWPFLRSFRVLRVFKLAKSWP>T<LNTLIKIIGNSVGALGSLTVVLVIVIFIFS716
SCN1AANVE-----GLSVLRSFRLLRVFKLAKSWP>T<LNMLIKIIGNSVGALGNLTLVLAIIVFIFA905
SCN2AANVE-----GLSVLRSFRLLRVFKLAKSWP>T<LNMLIKIIGNSVGALGNLTLVLAIIVFIFA896
SCN3ASNVE-----GLSVLRSFRLLRVFKLAKSWP>T<LNMLIKIIGNSVGALGNLTLVLAIIVFIFA897
SCN4AANVQ-----GLSVLRSFRLLRVFKLAKSWP>T<LNMLIKIIGNSVGALGNLTLVLAIIVFIFA715
SCN5ASRMS-----NLSVLRSFRLLRVFKLAKSWP>T<LNTLIKIIGNSVGALGNLTLVLAIIVFIFA854
SCN7AANVA-----GMALLRLFRMLRIFKLGKYWP>T<FQILMWSLSNSWVALKDLVLLLFTFIFFSA642
SCN8AADVE-----GLSVLRSFRLLRVFKLAKSWP>T<LNMLIKIIGNSVGALGNLTLVLAIIVFIFA890
SCN9AADVE-----GLSVLRSFRLLRVFKLAKSWP>T<LNMLIKIIGNSVGALGNLTLVLAIIVFIFA870
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 636 for CACNA1C.