Paralogue Annotation for CACNA1C residue 250

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 250
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 250

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HR212RAutism spectrum disorder ?Medium9 16754686
SCN5AV232IBrugada syndrome, lidocaine-inducedMedium9 18599870, 23414114, 24055113, 24136861, 25637381

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.



CACNA1CGANALGGKGAGFDVKALRAFRVLRPLRLVS>G<VPSLQVVLNSIIKAMVPLLHIALLVLFVII280
CACNA1A------------DLRTLRAVRVLRPLKLVS>G<IPSLQVVLKSIMKAMIPLLQIGLLLFFAIL238
CACNA1B------------DLRTLRAVRVLRPLKLVS>G<IPSLQVVLKSIMKAMVPLLQIGLLLFFAIL235
CACNA1DGGNHSSGKSGGFDVKALRAFRVLRPLRLVS>G<VPSLQVVLNSIIKAMVPLLHIALLVLFVII283
CACNA1E---------THVDLRTLRAVRVLRPLKLVS>G<IPSLQIVLKSIMKAMVPLLQIGLLLFFAIL233
CACNA1FDAPHTGGKPGGFDVKALRAFRVLRPLRLVS>G<VPSLHIVLNSIMKALVPLLHIALLVLFVII249
CACNA1G----------NVSFSAVRTVRVLRPLRAIN>R<VPSMRILVTLLLDTLPMLGNVLLLCFFVFF223
CACNA1H----------NVSLSAIRTVRVLRPLRAIN>R<VPSMRILVTLLLDTLPMLGNVLLLCFFVFF242
CACNA1I----------NINLSAIRTVRVLRPLKAIN>R<VPSMRILVNLLLDTLPMLGNVLLLCFFVFF221
CACNA1SHTAPMSSKGAGLDVKALRAFRVLRPLRLVS>G<VPSLQVVLNSIFKAMLPLFHIALLVLFMVI208
SCN10A------------GISGLRTFRVLRALKTVS>V<IPGLKVIVGALIHSVKKLADVTILTIFCLS258
SCN11A-----------IKLLPLRTFRVFRALKAIS>V<VSRLKVIVGALLRSVKKLVNVIILTFFCLS265
SCN1A------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS259
SCN2A------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS260
SCN3A------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS259
SCN4A------------NISALRTFRVLRALKTIT>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS262
SCN5A------------NLSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLADVMVLTVFCLS262
SCN7A------------FIPTLQTARTLRILKIIP>L<NQGLKSLVGVLIHCLKQLIGVIILTLFFLS249
SCN8A------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS263
SCN9A------------NVSALRTFRVLRALKTIS>V<IPGLKTIVGALIQSVKKLSDVMILTVFCLS257
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 250 for CACNA1C.