Paralogue Annotation for CACNA1C residue 662

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 662
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 662

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AV892INeonatal-infantile seizuresMedium9 15048894

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.



CACNA1CRYWNSLSNLVASLLNSVRSIASLLLLLFLF>I<IIFSLLGMQLFGGKFNFD-E----------681
CACNA1AKYWASLRNLVVSLLNSMKSIISLLFLLFLF>I<VVFALLGMQLFGGQFNFD-E----------644
CACNA1BKYWSSLRNLVVSLLNSMKSIISLLFLLFLF>I<VVFALLGMQLFGGQFNFQ-D----------640
CACNA1DRHWTSLSNLVASLLNSMKSIASLLLLLFLF>I<IIFSLLGMQLFGGKFNFD-E----------700
CACNA1EKYWASLRNLVVSLMSSMKSIISLLFLLFLF>I<VVFALLGMQLFGGRFNFN-D----------633
CACNA1FRHWASLSNLVASLLNSMKSIASLLLLLFLF>I<IIFSLLGMQLFGGKFNFD-Q----------686
CACNA1GRFLPALQRQLVVLMKTMDNVATFCMLLMLF>I<FIFSILGMHLFGCKFASER---------DG897
CACNA1HRFLPALRRQLVVLVKTMDNVATFCTLLMLF>I<FIFSILGMHLFGCKFSLKTD--------TG948
CACNA1IRFMPALRRQLVVLMKTMDNVATFCMLLMLF>I<FIFSILGMHIFGCKFSLRTD--------TG795
CACNA1SKYWTSLSNLVASLLNSIRSIASLLLLLFLF>I<VIFALLGMQLFGGRYDFE-D----------589
SCN10AKSWPTLNTLIKIIGNSVGALGNLTIILAII>V<FVFALVGKQLLGENYRNN-RKN----I-SA822
SCN11AKSWPTLNTLIKIIGNSVGALGSLTVVLVIV>I<FIFSVVGMQLFGRSFNSQ-KSPKLCNPTGP741
SCN1AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKDC-VCK----I-AS925
SCN2AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-SN916
SCN3AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-ND917
SCN4AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-AL735
SCN5AKSWPTLNTLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKNYSEL-RDS----D-SG874
SCN7AKYWPTFQILMWSLSNSWVALKDLVLLLFTF>I<FFSAAFGMKLFGKNYEEF-VCH----I-DK662
SCN8AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-NQ910
SCN9AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-ND890
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 662 for CACNA1C.