Paralogue Annotation for CACNA1C residue 280

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 280
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 280

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS259RDravet syndromeMedium9 20431604, 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.



CACNA1CGVPSLQVVLNSIIKAMVPLLHIALLVLFVI>I<IYAIIGLELFMGKMHKTCYNQEGIAD----306
CACNA1AGIPSLQVVLKSIMKAMIPLLQIGLLLFFAI>L<IFAIIGLEFYMGKFHTTCFE-E-GTD----262
CACNA1BGIPSLQVVLKSIMKAMVPLLQIGLLLFFAI>L<MFAIIGLEFYMGKFHKACFP-N-STD----259
CACNA1DGVPSLQVVLNSIIKAMVPLLHIALLVLFVI>I<IYAIIGLELFIGKMHKTCFF-A-DSD----307
CACNA1EGIPSLQIVLKSIMKAMVPLLQIGLLLFFAI>L<MFAIIGLEFYSGKLHRACFM-N-NSG----257
CACNA1FGVPSLHIVLNSIMKALVPLLHIALLVLFVI>I<IYAIIGLELFLGRMHKTCYF-L-GSD----273
CACNA1GRVPSMRILVTLLLDTLPMLGNVLLLCFFVF>F<IFGIVGVQLWAGLLRNRCFL-P-ENFSLPL251
CACNA1HRVPSMRILVTLLLDTLPMLGNVLLLCFFVF>F<IFGIVGVQLWAGLLRNRCFL-D-SAFVRNN270
CACNA1IRVPSMRILVNLLLDTLPMLGNVLLLCFFVF>F<IFGIIGVQLWAGLLRNRCFL-E-ENFTIQG249
CACNA1SGVPSLQVVLNSIFKAMLPLFHIALLVLFMV>I<IYAIIGLELFKGKMHKTCYF-I-GTD----232
SCN10AVIPGLKVIVGALIHSVKKLADVTILTIFCL>S<VFALVGLQLFKGNLKNKCVK-N--------279
SCN11AVVSRLKVIVGALLRSVKKLVNVIILTFFCL>S<IFALVGQQLFMGSLNLKCIS-R--------286
SCN1AVIPGLKTIVGALIQSVKKLSDVMILTVFCL>S<VFALIGLQLFMGNLRNKCIQ-WP-PTNASL287
SCN2AVIPGLKTIVGALIQSVKKLSDVMILTVFCL>S<VFALIGLQLFMGNLRNKCLQ-WP-PDNSSF288
SCN3AVIPGLKTIVGALIQSVKKLSDVMILTVFCL>S<VFALIGLQLFMGNLRNKCLQ-WP-PSDSAF287
SCN4AVIPGLKTIVGALIQSVKKLSDVMILTVFCL>S<VFALVGLQLFMGNLRQKCVR-WP-PPFN--288
SCN5AVIPGLKTIVGALIQSVKKLADVMVLTVFCL>S<VFALIGLQLFMGNLRHKCVR----------282
SCN7ALNQGLKSLVGVLIHCLKQLIGVIILTLFFL>S<IFSLIGMGLFMGNLKHKCFR-WP-QENE--275
SCN8AVIPGLKTIVGALIQSVKKLSDVMILTVFCL>S<VFALIGLQLFMGNLRNKCVV-WP-------285
SCN9AVIPGLKTIVGALIQSVKKLSDVMILTVFCL>S<VFALIGLQLFMGNLKHKCFR-NS-------279
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 280 for CACNA1C.