Paralogue Annotation for CACNA1C residue 284

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 284
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 284

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL263VHemiplegic migraine and epilepsyMedium9 19220312, 18621678, 24646837
SCN4AL266VMyotoniaMedium9 11294924

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.



CACNA1CLQVVLNSIIKAMVPLLHIALLVLFVIIIYA>I<IGLELFMGKMHKTCYNQEGIAD--------306
CACNA1ALQVVLKSIMKAMIPLLQIGLLLFFAILIFA>I<IGLEFYMGKFHTTCFE-E-GTD--------262
CACNA1BLQVVLKSIMKAMVPLLQIGLLLFFAILMFA>I<IGLEFYMGKFHKACFP-N-STD--------259
CACNA1DLQVVLNSIIKAMVPLLHIALLVLFVIIIYA>I<IGLELFIGKMHKTCFF-A-DSD--------307
CACNA1ELQIVLKSIMKAMVPLLQIGLLLFFAILMFA>I<IGLEFYSGKLHRACFM-N-NSG--------257
CACNA1FLHIVLNSIMKALVPLLHIALLVLFVIIIYA>I<IGLELFLGRMHKTCYF-L-GSD--------273
CACNA1GMRILVTLLLDTLPMLGNVLLLCFFVFFIFG>I<VGVQLWAGLLRNRCFL-P-ENFSLPLSVD-254
CACNA1HMRILVTLLLDTLPMLGNVLLLCFFVFFIFG>I<VGVQLWAGLLRNRCFL-D-SAFVRNNNLTF274
CACNA1IMRILVNLLLDTLPMLGNVLLLCFFVFFIFG>I<IGVQLWAGLLRNRCFL-E-ENFTIQGDVA-252
CACNA1SLQVVLNSIFKAMLPLFHIALLVLFMVIIYA>I<IGLELFKGKMHKTCYF-I-GTD--------232
SCN10ALKVIVGALIHSVKKLADVTILTIFCLSVFA>L<VGLQLFKGNLKNKCVK-N------------279
SCN11ALKVIVGALLRSVKKLVNVIILTFFCLSIFA>L<VGQQLFMGSLNLKCIS-R------------286
SCN1ALKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCIQ-WP-PTNASLEEH-290
SCN2ALKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCLQ-WP-PDNSSFEIN-291
SCN3ALKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCLQ-WP-PSDSAFETN-290
SCN4ALKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<VGLQLFMGNLRQKCVR-WP-PPFN--DTN-291
SCN5ALKTIVGALIQSVKKLADVMVLTVFCLSVFA>L<IGLQLFMGNLRHKCVR--------------282
SCN7ALKSLVGVLIHCLKQLIGVIILTLFFLSIFS>L<IGMGLFMGNLKHKCFR-WP-QENE------275
SCN8ALKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLRNKCVV-WP-----------285
SCN9ALKTIVGALIQSVKKLSDVMILTVFCLSVFA>L<IGLQLFMGNLKHKCFR-NS-----------279
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 284 for CACNA1C.