Paralogue Annotation for CACNA1C residue 294

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 294
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 294

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL276QBrugada syndromeMedium9 17697823
SCN5AL276PBrugada syndromeMedium9 23973953

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.



CACNA1CAMVPLLHIALLVLFVIIIYAIIGLELFMGK>M<HKTCYNQEGIAD-------------V----307
CACNA1AAMIPLLQIGLLLFFAILIFAIIGLEFYMGK>F<HTTCFE-E-GTD------------DI----264
CACNA1BAMVPLLQIGLLLFFAILMFAIIGLEFYMGK>F<HKACFP-N-STD------------A-----260
CACNA1DAMVPLLHIALLVLFVIIIYAIIGLELFIGK>M<HKTCFF-A-DSD-------------I----308
CACNA1EAMVPLLQIGLLLFFAILMFAIIGLEFYSGK>L<HRACFM-N-NSG------------IL----259
CACNA1FALVPLLHIALLVLFVIIIYAIIGLELFLGR>M<HKTCYF-L-GSD-------------M----274
CACNA1GTLPMLGNVLLLCFFVFFIFGIVGVQLWAGL>L<RNRCFL-P-ENFSLPLSVD-LE-RYYQT-E262
CACNA1HTLPMLGNVLLLCFFVFFIFGIVGVQLWAGL>L<RNRCFL-D-SAFVRNNNLTFLR-PYYQT-E282
CACNA1ITLPMLGNVLLLCFFVFFIFGIIGVQLWAGL>L<RNRCFL-E-ENFTIQGDVA-LP-PYYQP-E260
CACNA1SAMLPLFHIALLVLFMVIIYAIIGLELFKGK>M<HKTCYF-I-GTD-------------I----233
SCN10ASVKKLADVTILTIFCLSVFALVGLQLFKGN>L<KNKCVK-N-------------------DMA282
SCN11ASVKKLVNVIILTFFCLSIFALVGQQLFMGS>L<NLKCIS-R-------------------DCK289
SCN1ASVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCIQ-WP-PTNASLEEH-SI-EKNITVN299
SCN2ASVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCLQ-WP-PDNSSFEIN-ITSFFNNSLD301
SCN3ASVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCLQ-WP-PSDSAFETN-TTSYFNGTMD300
SCN4ASVKKLSDVMILTVFCLSVFALVGLQLFMGN>L<RQKCVR-WP-PPFN--DTN-TTWYSNDTWY301
SCN5ASVKKLADVMVLTVFCLSVFALIGLQLFMGN>L<RHKCVR--------------------NFTA286
SCN7ACLKQLIGVIILTLFFLSIFSLIGMGLFMGN>L<KHKCFR-WP-QENE----------------275
SCN8ASVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<RNKCVV-WP-------------------IN287
SCN9ASVKKLSDVMILTVFCLSVFALIGLQLFMGN>L<KHKCFR-NS-------------------LE281
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 294 for CACNA1C.