Paralogue Annotation for CACNA1C residue 297

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 297
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 297

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AK276QDravet syndromeMedium9 26096185

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.



CACNA1CPLLHIALLVLFVIIIYAIIGLELFMGKMHK>T<CYNQEGIAD-------------V----PA-309
CACNA1APLLQIGLLLFFAILIFAIIGLEFYMGKFHT>T<CFE-E-GTD------------DI-----Q-265
CACNA1BPLLQIGLLLFFAILMFAIIGLEFYMGKFHK>A<CFP-N-STD------------A------E-261
CACNA1DPLLHIALLVLFVIIIYAIIGLELFIGKMHK>T<CFF-A-DSD-------------I----VA-310
CACNA1EPLLQIGLLLFFAILMFAIIGLEFYSGKLHR>A<CFM-N-NSG------------IL----EG-261
CACNA1FPLLHIALLVLFVIIIYAIIGLELFLGRMHK>T<CYF-L-GSD-------------M----EA-276
CACNA1GMLGNVLLLCFFVFFIFGIVGVQLWAGLLRN>R<CFL-P-ENFSLPLSVD-LE-RYYQT-ENE-264
CACNA1HMLGNVLLLCFFVFFIFGIVGVQLWAGLLRN>R<CFL-D-SAFVRNNNLTFLR-PYYQT-EEG-284
CACNA1IMLGNVLLLCFFVFFIFGIIGVQLWAGLLRN>R<CFL-E-ENFTIQGDVA-LP-PYYQP-EED-262
CACNA1SPLFHIALLVLFMVIIYAIIGLELFKGKMHK>T<CYF-I-GTD-------------I----VAT236
SCN10AKLADVTILTIFCLSVFALVGLQLFKGNLKN>K<CVK-N-------------------DMAVN-284
SCN11AKLVNVIILTFFCLSIFALVGQQLFMGSLNL>K<CIS-R-------------------DCK-N-290
SCN1AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CIQ-WP-PTNASLEEH-SI-EKNITVNYN-301
SCN2AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CLQ-WP-PDNSSFEIN-ITSFFNNSLDGN-303
SCN3AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CLQ-WP-PSDSAFETN-TTSYFNGTMDSN-302
SCN4AKLSDVMILTVFCLSVFALVGLQLFMGNLRQ>K<CVR-WP-PPFN--DTN-TTWYSNDTWYGN-303
SCN5AKLADVMVLTVFCLSVFALIGLQLFMGNLRH>K<CVR--------------------NFTALN-288
SCN7AQLIGVIILTLFFLSIFSLIGMGLFMGNLKH>K<CFR-WP-QENE-----------------N-276
SCN8AKLSDVMILTVFCLSVFALIGLQLFMGNLRN>K<CVV-WP-------------------INFN-289
SCN9AKLSDVMILTVFCLSVFALIGLQLFMGNLKH>K<CFR-NS-------------------LENN-283
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 297 for CACNA1C.