Paralogue Annotation for CACNA1C residue 296

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 296
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 296

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AH278DBrugada syndromeMedium9 20129283

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.



CACNA1CVPLLHIALLVLFVIIIYAIIGLELFMGKMH>K<TCYNQEGIAD-------------V----PA309
CACNA1AIPLLQIGLLLFFAILIFAIIGLEFYMGKFH>T<TCFE-E-GTD------------DI-----Q265
CACNA1BVPLLQIGLLLFFAILMFAIIGLEFYMGKFH>K<ACFP-N-STD------------A------E261
CACNA1DVPLLHIALLVLFVIIIYAIIGLELFIGKMH>K<TCFF-A-DSD-------------I----VA310
CACNA1EVPLLQIGLLLFFAILMFAIIGLEFYSGKLH>R<ACFM-N-NSG------------IL----EG261
CACNA1FVPLLHIALLVLFVIIIYAIIGLELFLGRMH>K<TCYF-L-GSD-------------M----EA276
CACNA1GPMLGNVLLLCFFVFFIFGIVGVQLWAGLLR>N<RCFL-P-ENFSLPLSVD-LE-RYYQT-ENE264
CACNA1HPMLGNVLLLCFFVFFIFGIVGVQLWAGLLR>N<RCFL-D-SAFVRNNNLTFLR-PYYQT-EEG284
CACNA1IPMLGNVLLLCFFVFFIFGIIGVQLWAGLLR>N<RCFL-E-ENFTIQGDVA-LP-PYYQP-EED262
CACNA1SLPLFHIALLVLFMVIIYAIIGLELFKGKMH>K<TCYF-I-GTD-------------I----VA235
SCN10AKKLADVTILTIFCLSVFALVGLQLFKGNLK>N<KCVK-N-------------------DMAVN284
SCN11AKKLVNVIILTFFCLSIFALVGQQLFMGSLN>L<KCIS-R-------------------DCK-N290
SCN1AKKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCIQ-WP-PTNASLEEH-SI-EKNITVNYN301
SCN2AKKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCLQ-WP-PDNSSFEIN-ITSFFNNSLDGN303
SCN3AKKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCLQ-WP-PSDSAFETN-TTSYFNGTMDSN302
SCN4AKKLSDVMILTVFCLSVFALVGLQLFMGNLR>Q<KCVR-WP-PPFN--DTN-TTWYSNDTWYGN303
SCN5AKKLADVMVLTVFCLSVFALIGLQLFMGNLR>H<KCVR--------------------NFTALN288
SCN7AKQLIGVIILTLFFLSIFSLIGMGLFMGNLK>H<KCFR-WP-QENE-----------------N276
SCN8AKKLSDVMILTVFCLSVFALIGLQLFMGNLR>N<KCVV-WP-------------------INFN289
SCN9AKKLSDVMILTVFCLSVFALIGLQLFMGNLK>H<KCFR-NS-------------------LENN283
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 296 for CACNA1C.