Paralogue Annotation for CACNA1C residue 633

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 633
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 633

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS872YDravet syndromeMedium9 24168886

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.



CACNA1CTILVETKIMSPLGISVLRCVRLLRIFKITR>Y<WNSLSNLVASLLNSVRSIASLLLLLFLFII663
CACNA1AVIWAVIKPGTSFGISVLRALRLLRIFKVTK>Y<WASLRNLVVSLLNSMKSIISLLFLLFLFIV626
CACNA1BVVWAAIKPGSSFGISVLRALRLLRIFKVTK>Y<WSSLRNLVVSLLNSMKSIISLLFLLFLFIV622
CACNA1DTILVELEIMSPLGISVFRCVRLLRIFKVTR>H<WTSLSNLVASLLNSMKSIASLLLLLFLFII682
CACNA1EVVWAIFRPGTSFGISVLRALRLLRIFKITK>Y<WASLRNLVVSLMSSMKSIISLLFLLFLFIV615
CACNA1FTTLVEVGAMQPLGISVLRCVRLLRIFKVTR>H<WASLSNLVASLLNSMKSIASLLLLLFLFII668
CACNA1GIVGQQGG-----GLSVLRTFRLMRVLKLVR>F<LPALQRQLVVLMKTMDNVATFCMLLMLFIF877
CACNA1HIVGQADG-----GLSVLRTFRLLRVLKLVR>F<LPALRRQLVVLVKTMDNVATFCTLLMLFIF927
CACNA1IIVGQADG-----GLSVLRTFRLLRVLKLVR>F<MPALRRQLVVLMKTMDNVATFCMLLMLFIF774
CACNA1SILLVESGAMTPLGISVLRCIRLLRIFKITK>Y<WTSLSNLVASLLNSIRSIASLLLLLFLFIV571
SCN10ALGVAKKG-----SLSVLRSFRLLRVFKLAK>S<WPTLNTLIKIIGNSVGALGNLTIILAIIVF799
SCN11AVMNCVLQKR---SWPFLRSFRVLRVFKLAK>S<WPTLNTLIKIIGNSVGALGSLTVVLVIVIF713
SCN1ALGLANVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF902
SCN2ALGLANVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF893
SCN3ALGLSNVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF894
SCN4ALGLANVQ-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF712
SCN5ALGLSRMS-----NLSVLRSFRLLRVFKLAK>S<WPTLNTLIKIIGNSVGALGNLTLVLAIIVF851
SCN7ALCLANVA-----GMALLRLFRMLRIFKLGK>Y<WPTFQILMWSLSNSWVALKDLVLLLFTFIF639
SCN8ALSLADVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF887
SCN9ALFLADVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF867
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 633 for CACNA1C.